Tag | Content |
---|---|
Uniprot ID | Q13950; O14614; O14615; O95181; |
Entrez ID | 860 |
Genbank protein ID | AAA89072.1; AAB65158.1; AAB65159.2; AAC77441.1; AAC78624.1; |
Genbank nucleotide ID | NM_001015051.3; NM_001024630.3; |
Ensembl protein ID | ENSP00000360486; ENSP00000360493; ENSP00000352514; ENSP00000495497; ENSP00000360491; |
Ensembl nucleotide ID | ENSG00000124813 |
Gene name | Runt-related transcription factor 2 |
Gene symbol | RUNX2 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | CL/P |
Developmental stage | |
Data sources | Manually collected |
Reference | 23909516; 22241686; 18357615; |
Functional description | Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation. |
Sequence | MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ QQQQQQQQQQ 60 QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR TMVEIIADHP AELVRTDSPN 120 FLCSVLPSHW RCNKTLPVAF KVVALGEVPD GTVVTVMAGN DENYSAELRN ASAVMKNQVA 180 RFNDLRFVGR SGRGKSFTLT ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS 240 LFSDRLSDLG RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD 300 QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS DDDTATSDFC LWPSTLSKKS 360 QAGASELGPF SDPRQFPSIS SLTESRFSNP RMHYPATFTY TPPVTSGMSL GMSATTHYHT 420 YLPPPYPGSS QSQSGPFQTS STPYLYYGTS SGSYQFPMVP GGDRSPSRML PPCTTTSNGS 480 TLLNPNLPNQ NDGVDADGSH SSSPTVLNSS GRMDESVWRP Y 521 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
---|---|---|---|---|---|---|---|---|
1:1 ortholog | RUNX2 | 102183278 | A0A452ETJ7 | Capra hircus | Prediction | More>> | ||
1:1 ortholog | RUNX2 | 860 | Q13950 | CL/P | Homo sapiens | Publication | More>> | |
1:1 ortholog | Runx2 | 12393 | Q08775 | CPO | E14.5, E16.5 | Mus musculus | Publication | More>> |
1:1 ortholog | RUNX2 | A0A2J8P0L4 | Pan troglodytes | Prediction | More>> | |||
1:1 ortholog | Runx2 | 367218 | F1M9C5 | Rattus norvegicus | Prediction | More>> | ||
1:1 ortholog | runx2a | F1R272 | Danio rerio | Prediction | More>> |
Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
---|---|---|---|
RUNX2 | rs545289 | Genotyping; TDT | 22241686 |
RUNX2 | rs2153277 | Genotyping; TDT | 22241686 |
RUNX2 | rs1200426 | Genotyping; TDT | 22241686 |
RUNX2 | rs1200425 | Genotyping; TDT | 22241686 |
RUNX2 | rs9395112 | Genotyping; TDT | 22241686 |
RUNX2 | rs2782660 | Genotyping; TDT | 22241686 |
RUNX2 | rs1934328 | Genotyping; TDT | 18357615 |
RUNX2 | rs910586 | Genotyping; TDT | 18357615 |
RUNX2 | rs2819861 | Genotyping; TDT | 18357615 |
RUNX2 | rs1934328 | Genotyping; TDT | 23909516 |
ID | Variant | Type | Disease | Chromosome\Coordinate | Evidence |
---|---|---|---|---|---|
RCV000784917 | p.Met1Ile | missense variant | - | NC_000006.12:g.45328729G>A | ClinVar |
rs75454554 | p.Ser3Leu | missense variant | - | NC_000006.12:g.45328734C>T | ESP,ExAC,gnomAD |
rs75454554 | p.Ser3Ter | stop gained | - | NC_000006.12:g.45328734C>A | ESP,ExAC,gnomAD |
rs541256105 | p.Ser5Asn | missense variant | - | NC_000006.12:g.45328740G>A | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Ser8Asn | missense variant | - | NC_000006.12:g.45328749G>A | NCI-TCGA |
rs746275240 | p.Thr11Ala | missense variant | - | NC_000006.12:g.45328757A>G | ExAC,gnomAD |
rs373621180 | p.Pro12Leu | missense variant | - | NC_000006.12:g.45328761C>T | ESP,ExAC,TOPMed,gnomAD |
rs779487649 | p.Pro12Ser | missense variant | - | NC_000006.12:g.45328760C>T | ExAC,gnomAD |
rs373621180 | p.Pro12Arg | missense variant | - | NC_000006.12:g.45328761C>G | ESP,ExAC,TOPMed,gnomAD |
rs1308444345 | p.Cys13Arg | missense variant | - | NC_000006.12:g.45328763T>C | TOPMed,gnomAD |
rs1308444345 | p.Cys13Gly | missense variant | - | NC_000006.12:g.45328763T>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Cys13Tyr | missense variant | - | NC_000006.12:g.45328764G>A | NCI-TCGA |
rs768149057 | p.Gln14Glu | missense variant | - | NC_000006.12:g.45328766C>G | ExAC,TOPMed,gnomAD |
rs768149057 | p.Gln14Lys | missense variant | - | NC_000006.12:g.45328766C>A | ExAC,TOPMed,gnomAD |
rs1441434124 | p.Gln15Lys | missense variant | - | NC_000006.12:g.45328769C>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Gln15Ter | stop gained | - | NC_000006.12:g.45328769C>T | NCI-TCGA |
rs1220365106 | p.Phe18Leu | missense variant | - | NC_000006.12:g.45328778T>C | gnomAD |
rs1292121646 | p.Phe18Ser | missense variant | - | NC_000006.12:g.45328779T>C | gnomAD |
rs776156260 | p.Asp20Asn | missense variant | - | NC_000006.12:g.45328784G>A | ExAC,gnomAD |
rs780033324 | p.Pro21Leu | missense variant | - | NC_000006.12:g.45422596C>T | ExAC,gnomAD |
rs771988272 | p.Pro21Thr | missense variant | - | NC_000006.12:g.45422595C>A | ExAC,gnomAD |
rs768497827 | p.Ser22Asn | missense variant | - | NC_000006.12:g.45422599G>A | ExAC,gnomAD |
rs776729949 | p.Thr23Pro | missense variant | - | NC_000006.12:g.45422601A>C | ExAC |
rs1384263802 | p.Arg25Pro | missense variant | - | NC_000006.12:g.45422608G>C | gnomAD |
rs1180264044 | p.Arg26His | missense variant | - | NC_000006.12:g.45422611G>A | TOPMed |
rs1457634604 | p.Phe27Leu | missense variant | - | NC_000006.12:g.45422613T>C | TOPMed |
rs114654066 | p.Pro29Thr | missense variant | - | NC_000006.12:g.45422619C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs114654066 | p.Pro29Ser | missense variant | - | NC_000006.12:g.45422619C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs573668161 | p.Pro30Arg | missense variant | - | NC_000006.12:g.45422623C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs990671181 | p.Pro30Ala | missense variant | - | NC_000006.12:g.45422622C>G | TOPMed,gnomAD |
rs573668161 | p.Pro30His | missense variant | - | NC_000006.12:g.45422623C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs990671181 | p.Pro30Thr | missense variant | - | NC_000006.12:g.45422622C>A | TOPMed,gnomAD |
RCV000055837 | p.Ser31Ter | frameshift | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45422624dup | ClinVar |
COSM1444867 | p.Ser31ProPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000006.12:g.45422618C>- | NCI-TCGA Cosmic |
rs1336402260 | p.Ser32Arg | missense variant | - | NC_000006.12:g.45422630C>A | gnomAD |
rs1384459632 | p.Ser33Cys | missense variant | - | NC_000006.12:g.45422631A>T | TOPMed,gnomAD |
rs534661233 | p.Leu34Val | missense variant | - | NC_000006.12:g.45422634C>G | 1000Genomes,ExAC,gnomAD |
rs1442575261 | p.Gln35His | missense variant | - | NC_000006.12:g.45422639G>T | gnomAD |
rs1048885121 | p.Gln35Arg | missense variant | - | NC_000006.12:g.45422638A>G | TOPMed |
rs1048885121 | p.Gln35Leu | missense variant | - | NC_000006.12:g.45422638A>T | TOPMed |
rs1358936930 | p.Gln35Ter | stop gained | - | NC_000006.12:g.45422637C>T | gnomAD |
rs1247004200 | p.Pro36Ser | missense variant | - | NC_000006.12:g.45422640C>T | TOPMed,gnomAD |
rs1247004200 | p.Pro36Ala | missense variant | - | NC_000006.12:g.45422640C>G | TOPMed,gnomAD |
rs760049118 | p.Gly37Arg | missense variant | - | NC_000006.12:g.45422643G>C | ExAC,TOPMed,gnomAD |
rs1195139165 | p.Met39Thr | missense variant | - | NC_000006.12:g.45422650T>C | gnomAD |
rs202042342 | p.Asp41Glu | missense variant | - | NC_000006.12:g.45422657C>A | 1000Genomes,ExAC,gnomAD |
rs200687912 | p.Asp41His | missense variant | - | NC_000006.12:g.45422655G>C | TOPMed,gnomAD |
rs753332305 | p.Val42Leu | missense variant | - | NC_000006.12:g.45422658G>T | ExAC,TOPMed,gnomAD |
rs753332305 | p.Val42Met | missense variant | - | NC_000006.12:g.45422658G>A | ExAC,TOPMed,gnomAD |
rs1013030225 | p.Val42Ala | missense variant | - | NC_000006.12:g.45422659T>C | TOPMed |
rs1242010684 | p.Pro44Leu | missense variant | - | NC_000006.12:g.45422665C>T | gnomAD |
rs1242010684 | p.Pro44Arg | missense variant | - | NC_000006.12:g.45422665C>G | gnomAD |
rs1405128308 | p.Val45Gly | missense variant | - | NC_000006.12:g.45422668T>G | TOPMed |
rs368475300 | p.Gln51Lys | missense variant | - | NC_000006.12:g.45422685C>A | ESP,ExAC,TOPMed,gnomAD |
rs1328346387 | p.Gln51Arg | missense variant | - | NC_000006.12:g.45422686A>G | gnomAD |
RCV000596521 | p.Gln51Lys | missense variant | - | NC_000006.12:g.45422685C>A | ClinVar |
VAR_064081 | p.Gln53Leu | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs758173198 | p.Gln54Arg | missense variant | - | NC_000006.12:g.45422695A>G | ExAC,gnomAD |
COSM4941172 | p.Gln54Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45422695A>C | NCI-TCGA Cosmic |
rs1393672497 | p.Gln56Ter | stop gained | - | NC_000006.12:g.45422700C>T | gnomAD |
rs779943223 | p.Gln59Arg | missense variant | - | NC_000006.12:g.45422710A>G | ExAC,TOPMed,gnomAD |
rs1490532126 | p.Gln64Arg | missense variant | - | NC_000006.12:g.45422725A>G | TOPMed |
rs1332669852 | p.Gln65Glu | missense variant | - | NC_000006.12:g.45422727C>G | gnomAD |
rs1243134950 | p.Gln66Arg | missense variant | - | NC_000006.12:g.45422731A>G | gnomAD |
rs1286291849 | p.Gln67Arg | missense variant | - | NC_000006.12:g.45422734A>G | gnomAD |
VAR_079576 | p.Gln67_Tyr521del | inframe_deletion | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1356693369 | p.Gln68Arg | missense variant | - | NC_000006.12:g.45422737A>G | gnomAD |
rs1261964211 | p.Gln69Arg | missense variant | - | NC_000006.12:g.45422740A>G | gnomAD |
rs769836316 | p.Gln69Lys | missense variant | - | NC_000006.12:g.45422739C>A | ExAC,gnomAD |
rs1255698663 | p.Gln70Leu | missense variant | - | NC_000006.12:g.45422743A>T | gnomAD |
rs1461425292 | p.Gln70Ter | stop gained | - | NC_000006.12:g.45422742C>T | gnomAD |
rs763117080 | p.Gln70His | missense variant | - | NC_000006.12:g.45422744G>T | ExAC,TOPMed,gnomAD |
rs774631263 | p.Gln71Glu | missense variant | - | NC_000006.12:g.45422745C>G | ExAC |
rs767984534 | p.Glu72Asp | missense variant | - | NC_000006.12:g.45422750G>C | ExAC,TOPMed |
rs759833497 | p.Glu72Gln | missense variant | - | NC_000006.12:g.45422748G>C | ExAC,gnomAD |
RCV000009878 | p.Glu72Ter | frameshift | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45422723_45422737delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG | ClinVar |
rs1374009579 | p.Ala73Glu | missense variant | - | NC_000006.12:g.45422752C>A | TOPMed,gnomAD |
rs1192865947 | p.Ala73Thr | missense variant | - | NC_000006.12:g.45422751G>A | gnomAD |
RCV000662189 | p.Ala73Ter | frameshift | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45422751del | ClinVar |
RCV000662190 | p.Ala73Ter | frameshift | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) | NC_000006.12:g.45422751del | ClinVar |
rs753139240 | p.Ala74Glu | missense variant | - | NC_000006.12:g.45422755C>A | ExAC,TOPMed,gnomAD |
rs1174985080 | p.Ala75Gly | missense variant | - | NC_000006.12:g.45422758C>G | gnomAD |
rs1470370276 | p.Ala77Val | missense variant | - | NC_000006.12:g.45422764C>T | gnomAD |
rs542999615 | p.Ala77Thr | missense variant | - | NC_000006.12:g.45422763G>A | 1000Genomes,ExAC |
rs749974335 | p.Ala78Glu | missense variant | - | NC_000006.12:g.45422767C>A | ExAC,TOPMed |
rs749974335 | p.Ala78Val | missense variant | - | NC_000006.12:g.45422767C>T | ExAC,TOPMed |
VAR_012131 | p.Ala78_Ala83del | inframe_deletion | - | - | UniProt |
rs1383016935 | p.Ala79Thr | missense variant | - | NC_000006.12:g.45422769G>A | gnomAD |
rs758081090 | p.Ala79Val | missense variant | - | NC_000006.12:g.45422770C>T | ExAC,TOPMed,gnomAD |
RCV000662187 | p.Ala79Ter | frameshift | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45422767_45422768insAGGA | ClinVar |
RCV000662188 | p.Ala79Ter | frameshift | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) | NC_000006.12:g.45422767_45422768insAGGA | ClinVar |
rs766130437 | p.Ala80Glu | missense variant | - | NC_000006.12:g.45422773C>A | ExAC,TOPMed,gnomAD |
rs1231971719 | p.Ala81Thr | missense variant | - | NC_000006.12:g.45422775G>A | TOPMed |
rs1041352009 | p.Ala81Glu | missense variant | - | NC_000006.12:g.45422776C>A | TOPMed |
rs781083561 | p.Ala82Thr | missense variant | - | NC_000006.12:g.45422778G>A | ExAC,gnomAD |
rs1485309580 | p.Ala84Val | missense variant | - | NC_000006.12:g.45422785C>T | gnomAD |
rs777793369 | p.Ala84Thr | missense variant | - | NC_000006.12:g.45422784G>A | ExAC,TOPMed,gnomAD |
VAR_012130 | p.Ala84insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla | repeated_sequence | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs372138746 | p.Ala85Val | missense variant | - | NC_000006.12:g.45422788C>T | ESP,ExAC,TOPMed,gnomAD |
RCV000435406 | p.Ala85Val | missense variant | - | NC_000006.12:g.45422788C>T | ClinVar |
rs746166928 | p.Ala86Glu | missense variant | - | NC_000006.12:g.45422791C>A | ExAC |
rs772291669 | p.Ala87Val | missense variant | - | NC_000006.12:g.45422794C>T | ExAC,gnomAD |
rs761037120 | p.Ala88Thr | missense variant | - | NC_000006.12:g.45422796G>A | ExAC,TOPMed |
rs761037120 | p.Ala88Ser | missense variant | - | NC_000006.12:g.45422796G>T | ExAC,TOPMed |
rs1429247338 | p.Val90Leu | missense variant | - | NC_000006.12:g.45422802G>C | gnomAD |
rs772777645 | p.Arg92Gln | missense variant | - | NC_000006.12:g.45422809G>A | ExAC,gnomAD |
rs772777645 | p.Arg92Leu | missense variant | - | NC_000006.12:g.45422809G>T | ExAC,gnomAD |
rs1386843651 | p.Pro95Gln | missense variant | - | NC_000006.12:g.45422818C>A | gnomAD |
rs1183896411 | p.His97Gln | missense variant | - | NC_000006.12:g.45422825C>A | TOPMed |
rs766042547 | p.Asp98Gly | missense variant | - | NC_000006.12:g.45422827A>G | ExAC,gnomAD |
rs150962268 | p.Asn99Ile | missense variant | - | NC_000006.12:g.45422830A>T | ESP,ExAC,TOPMed,gnomAD |
rs767171242 | p.Arg100Leu | missense variant | - | NC_000006.12:g.45422833G>T | ExAC,gnomAD |
rs754711247 | p.Arg100Ser | missense variant | - | NC_000006.12:g.45422832C>A | ExAC,gnomAD |
rs754711247 | p.Arg100Gly | missense variant | - | NC_000006.12:g.45422832C>G | ExAC,gnomAD |
rs376849024 | p.Met102Val | missense variant | - | NC_000006.12:g.45422838A>G | ESP,ExAC,TOPMed,gnomAD |
rs749283473 | p.Met102Thr | missense variant | - | NC_000006.12:g.45422839T>C | ExAC,gnomAD |
rs1199502681 | p.Val103Met | missense variant | - | NC_000006.12:g.45422841G>A | TOPMed |
rs1485928187 | p.Val103Ala | missense variant | - | NC_000006.12:g.45422842T>C | TOPMed |
COSM3874462 | p.Glu104Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000006.12:g.45422844G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ile105Thr | missense variant | - | NC_000006.12:g.45422848T>C | NCI-TCGA |
rs528470044 | p.Ala107Val | missense variant | - | NC_000006.12:g.45422854C>T | 1000Genomes |
rs1490639289 | p.His109Tyr | missense variant | - | NC_000006.12:g.45422859C>T | gnomAD |
rs1352066437 | p.His109Leu | missense variant | - | NC_000006.12:g.45422860A>T | TOPMed |
rs1490639289 | p.His109Asn | missense variant | - | NC_000006.12:g.45422859C>A | gnomAD |
rs150088136 | p.Pro110Leu | missense variant | - | NC_000006.12:g.45422863C>T | ESP,ExAC,TOPMed |
rs1342614199 | p.Ala111Gly | missense variant | - | NC_000006.12:g.45422866C>G | TOPMed |
rs1418628831 | p.Glu112Lys | missense variant | - | NC_000006.12:g.45422868G>A | gnomAD |
VAR_012132 | p.Leu113Arg | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs762474281 | p.Asp117Tyr | missense variant | - | NC_000006.12:g.45422883G>T | ExAC,TOPMed,gnomAD |
rs762474281 | p.Asp117His | missense variant | - | NC_000006.12:g.45422883G>C | ExAC,TOPMed,gnomAD |
rs762474281 | p.Asp117Asn | missense variant | - | NC_000006.12:g.45422883G>A | ExAC,TOPMed,gnomAD |
VAR_064082 | p.Ser118Asn | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_012133 | p.Ser118Arg | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_012134 | p.Phe121Cys | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_012135 | p.Cys123Arg | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1371950698 | p.Pro127Thr | missense variant | - | NC_000006.12:g.45422913C>A | gnomAD |
NCI-TCGA novel | p.Trp130Cys | missense variant | - | NC_000006.12:g.45422924G>T | NCI-TCGA |
rs1308549222 | p.Arg131His | missense variant | - | NC_000006.12:g.45422926G>A | gnomAD |
NCI-TCGA novel | p.Arg131Cys | missense variant | - | NC_000006.12:g.45422925C>T | NCI-TCGA |
VAR_064085 | p.Arg131Ser | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064083 | p.Arg131Cys | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064084 | p.Arg131Gly | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1356764547 | p.Asn133Ser | missense variant | - | NC_000006.12:g.45422932A>G | gnomAD |
VAR_012136 | p.Asn133del | inframe_deletion | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064086 | p.Leu136Pro | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs760449546 | p.Ala139Thr | missense variant | - | NC_000006.12:g.45422949G>A | ExAC,gnomAD |
rs1473913096 | p.Val142Leu | missense variant | - | NC_000006.12:g.45431863G>T | gnomAD |
rs759100705 | p.Leu145Phe | missense variant | - | NC_000006.12:g.45431872C>T | ExAC,gnomAD |
rs1428979499 | p.Gly146Arg | missense variant | - | NC_000006.12:g.45431875G>A | gnomAD |
rs370512978 | p.Glu147Lys | missense variant | - | NC_000006.12:g.45431878G>A | ESP,ExAC,gnomAD |
rs760361518 | p.Glu147Asp | missense variant | - | NC_000006.12:g.45431880G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Glu147Ter | missense variant | - | NC_000006.12:g.45431878G>T | NCI-TCGA |
rs763852761 | p.Pro149Ser | missense variant | - | NC_000006.12:g.45431884C>T | ExAC,gnomAD |
rs1360487110 | p.Gly151Ala | missense variant | - | NC_000006.12:g.45431891G>C | gnomAD |
rs373029816 | p.Thr152Ile | missense variant | - | NC_000006.12:g.45431894C>T | ESP,ExAC,TOPMed,gnomAD |
COSM1079805 | p.Thr155Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45431903C>T | NCI-TCGA Cosmic |
VAR_064088 | p.Val156Gly | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064087 | p.Val156Asp | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1426085360 | p.Met157Thr | missense variant | - | NC_000006.12:g.45431909T>C | TOPMed |
COSM1079807 | p.Ala158Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45431912C>T | NCI-TCGA Cosmic |
rs864621970 | p.Gly159Asp | missense variant | - | NC_000006.12:g.45431915G>A | - |
RCV000206373 | p.Gly159Asp | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45431915G>A | ClinVar |
COSM1079809 | p.Asn160ThrPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000006.12:g.45431916T>- | NCI-TCGA Cosmic |
rs1477047335 | p.Asp161Asn | missense variant | - | NC_000006.12:g.45431920G>A | TOPMed |
NCI-TCGA novel | p.Asp161Glu | missense variant | - | NC_000006.12:g.45431922T>A | NCI-TCGA |
rs780062825 | p.Glu162Gly | missense variant | - | NC_000006.12:g.45431924A>G | ExAC,gnomAD |
COSM1079811 | p.Asn163Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45431928T>G | NCI-TCGA Cosmic |
rs1203066173 | p.Arg169Trp | missense variant | - | NC_000006.12:g.45431944C>T | gnomAD |
rs104893995 | p.Arg169Pro | missense variant | - | NC_000006.12:g.45431945G>C | ExAC,gnomAD |
rs104893995 | p.Arg169Pro | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45431945G>C | UniProt,dbSNP |
VAR_064089 | p.Arg169Pro | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45431945G>C | UniProt |
rs104893995 | p.Arg169Gln | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45431945G>A | UniProt,dbSNP |
VAR_012137 | p.Arg169Gln | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45431945G>A | UniProt |
rs104893995 | p.Arg169Gln | missense variant | - | NC_000006.12:g.45431945G>A | ExAC,gnomAD |
RCV000009890 | p.Arg169Pro | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45431945G>C | ClinVar |
rs1001873615 | p.Asn170Lys | missense variant | - | NC_000006.12:g.45431949T>G | TOPMed |
rs568476296 | p.Val174Ala | missense variant | - | NC_000006.12:g.45431960T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201647225 | p.Met175Val | missense variant | - | NC_000006.12:g.45431962A>G | ExAC,TOPMed,gnomAD |
rs104893989 | p.Met175Arg | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45431963T>G | UniProt,dbSNP |
VAR_012138 | p.Met175Arg | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45431963T>G | UniProt |
rs104893989 | p.Met175Arg | missense variant | - | NC_000006.12:g.45431963T>G | ExAC,gnomAD |
rs104893989 | p.Met175Thr | missense variant | - | NC_000006.12:g.45431963T>C | ExAC,gnomAD |
RCV000009881 | p.Met175Arg | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45431963T>G | ClinVar |
VAR_064090 | p.Met175Lys | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs147359883 | p.Asn177Lys | missense variant | - | NC_000006.12:g.45431970C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs147359883 | p.Asn177Lys | missense variant | - | NC_000006.12:g.45431970C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000278819 | p.Asn177Lys | missense variant | - | NC_000006.12:g.45431970C>G | ClinVar |
rs1195717789 | p.Gln178Arg | missense variant | - | NC_000006.12:g.45431972A>G | gnomAD |
rs182416246 | p.Val179Leu | missense variant | - | NC_000006.12:g.45431974G>C | 1000Genomes,ExAC,gnomAD |
rs1480082466 | p.Ala180Thr | missense variant | - | NC_000006.12:g.45431977G>A | gnomAD |
NCI-TCGA novel | p.Arg181IlePheSerTerUnkUnk | frameshift | - | NC_000006.12:g.45431980_45431981insTAAT | NCI-TCGA |
NCI-TCGA novel | p.Phe182HisPheSerTerUnk | frameshift | - | NC_000006.12:g.45431982_45431983insCACATCAGAAAGGC | NCI-TCGA |
rs115974315 | p.Asn183Lys | missense variant | - | NC_000006.12:g.45431988C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM1165767 | p.Asp184Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45431989G>A | NCI-TCGA Cosmic |
COSM3830654 | p.Arg186Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45431996G>T | NCI-TCGA Cosmic |
VAR_079577 | p.Arg186Thr | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064092 | p.Phe187Ser | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1057521068 | p.Arg190Gln | missense variant | - | NC_000006.12:g.45432008G>A | - |
COSM1079813 | p.Arg190Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45432007C>T | NCI-TCGA Cosmic |
RCV000430285 | p.Arg190Gln | missense variant | - | NC_000006.12:g.45432008G>A | ClinVar |
VAR_012140 | p.Arg190Trp | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
RCV000009882 | p.Ser191Asn | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45432011G>A | ClinVar |
rs104893990 | p.Ser191Asn | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45432011G>A | UniProt,dbSNP |
VAR_012141 | p.Ser191Asn | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45432011G>A | UniProt |
rs104893990 | p.Ser191Asn | missense variant | - | NC_000006.12:g.45432011G>A | - |
NCI-TCGA novel | p.Ser191TrpPheSerTerUnkUnk | frameshift | - | NC_000006.12:g.45432000_45432001insGTGGGCCG | NCI-TCGA |
COSM1487800 | p.Gly192Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000006.12:g.45432013G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Arg193Ter | stop gained | - | NC_000006.12:g.45432016C>T | NCI-TCGA |
NCI-TCGA novel | p.Arg193Gln | missense variant | - | NC_000006.12:g.45432017G>A | NCI-TCGA |
VAR_079578 | p.Arg193Gly | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_012142 | p.Arg193Cys | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064093 | p.Arg193Gln | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
NCI-TCGA novel | p.Lys195Asn | missense variant | - | NC_000006.12:g.45437951G>C | NCI-TCGA |
NCI-TCGA novel | p.Lys195Met | missense variant | - | NC_000006.12:g.45437950A>T | NCI-TCGA |
VAR_012143 | p.Phe197Ser | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_012144 | p.Leu199Phe | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs104893993 | p.Thr200Ala | missense variant | - | NC_000006.12:g.45437964A>G | - |
rs104893993 | p.Thr200Ala | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45437964A>G | UniProt,dbSNP |
VAR_012145 | p.Thr200Ala | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45437964A>G | UniProt |
RCV000009888 | p.Thr200Ala | missense variant | Cleidocranial dysplasia, forme fruste, dental anomalies only | NC_000006.12:g.45437964A>G | ClinVar |
RCV000009887 | p.Thr200Ala | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45437964A>G | ClinVar |
VAR_064094 | p.Thr200Ile | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064095 | p.Ile201Lys | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
NCI-TCGA novel | p.Thr202Ala | missense variant | - | NC_000006.12:g.45437970A>G | NCI-TCGA |
rs147009083 | p.Val203Ile | missense variant | - | NC_000006.12:g.45437973G>A | ESP,ExAC,TOPMed,gnomAD |
rs772926106 | p.Phe204Cys | missense variant | - | NC_000006.12:g.45437977T>G | ExAC,gnomAD |
rs762910660 | p.Thr205Ala | missense variant | - | NC_000006.12:g.45437979A>G | ExAC,gnomAD |
VAR_012146 | p.Thr205Arg | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
NCI-TCGA novel | p.Pro207Ser | missense variant | - | NC_000006.12:g.45437985C>T | NCI-TCGA |
NCI-TCGA novel | p.Pro208Ser | missense variant | - | NC_000006.12:g.45437988C>T | NCI-TCGA |
VAR_012147 | p.Gln209Arg | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064096 | p.Gln209His | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1305465503 | p.Ala211Ser | missense variant | - | NC_000006.12:g.45437997G>T | TOPMed |
VAR_064097 | p.Ala211Pro | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
NCI-TCGA novel | p.Thr212Asn | missense variant | - | NC_000006.12:g.45438001C>A | NCI-TCGA |
rs138138469 | p.Tyr213Cys | missense variant | - | NC_000006.12:g.45438004A>G | ESP,ExAC,TOPMed,gnomAD |
rs774518258 | p.His214Gln | missense variant | - | NC_000006.12:g.45438008C>G | ExAC,gnomAD |
rs759679284 | p.Arg215Ser | missense variant | - | NC_000006.12:g.45438011A>T | ExAC,gnomAD |
rs752933596 | p.Lys218Asn | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45438020A>T | UniProt,dbSNP |
VAR_064099 | p.Lys218Asn | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45438020A>T | UniProt |
rs752933596 | p.Lys218Asn | missense variant | - | NC_000006.12:g.45438020A>T | ExAC,gnomAD |
VAR_064100 | p.Lys218Gln | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064098 | p.Lys218Glu | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1217642791 | p.Val219Ile | missense variant | - | NC_000006.12:g.45438021G>A | gnomAD |
VAR_064101 | p.Thr220Ile | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
NCI-TCGA novel | p.Asp222His | missense variant | - | NC_000006.12:g.45438030G>C | NCI-TCGA |
rs1325045940 | p.Pro224His | missense variant | - | NC_000006.12:g.45438037C>A | TOPMed |
rs104893992 | p.Arg225Trp | missense variant | - | NC_000006.12:g.45438039C>T | - |
rs104893992 | p.Arg225Trp | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45438039C>T | UniProt,dbSNP |
VAR_012149 | p.Arg225Trp | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45438039C>T | UniProt |
rs104893991 | p.Arg225Gln | missense variant | - | NC_000006.12:g.45438040G>A | - |
rs104893991 | p.Arg225Gln | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45438040G>A | UniProt,dbSNP |
VAR_012148 | p.Arg225Gln | missense variant | Cleidocranial dysplasia (CLCD) | NC_000006.12:g.45438040G>A | UniProt |
RCV000009885 | p.Arg225Gln | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45438040G>A | ClinVar |
RCV000731332 | p.Arg225Gln | missense variant | - | NC_000006.12:g.45438040G>A | ClinVar |
NCI-TCGA novel | p.Arg225Leu | missense variant | - | NC_000006.12:g.45438040G>T | NCI-TCGA |
RCV000009886 | p.Arg225Trp | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45438039C>T | ClinVar |
VAR_064102 | p.Arg225Leu | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064103 | p.Arg228Gly | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs765653239 | p.His230Asn | missense variant | - | NC_000006.12:g.45491943C>A | ExAC,gnomAD |
rs1405556189 | p.Gln232Glu | missense variant | - | NC_000006.12:g.45491949C>G | gnomAD |
VAR_064104 | p.Lys233Arg | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1289838464 | p.Leu234Pro | missense variant | - | NC_000006.12:g.45491956T>C | TOPMed |
rs373709122 | p.Asp235His | missense variant | - | NC_000006.12:g.45491958G>C | ESP,ExAC,gnomAD |
rs780701424 | p.Asp235Gly | missense variant | - | NC_000006.12:g.45491959A>G | ExAC,gnomAD |
rs180860949 | p.Asp236Val | missense variant | - | NC_000006.12:g.45491962A>T | 1000Genomes |
rs186720964 | p.Pro239Leu | missense variant | - | NC_000006.12:g.45491971C>T | 1000Genomes |
rs752156180 | p.Pro239Ser | missense variant | - | NC_000006.12:g.45491970C>T | ExAC,gnomAD |
rs752156180 | p.Pro239Thr | missense variant | - | NC_000006.12:g.45491970C>A | ExAC,gnomAD |
rs749040759 | p.Ser240Arg | missense variant | - | NC_000006.12:g.45491975T>A | ExAC,gnomAD |
rs1319345318 | p.Ser240Asn | missense variant | - | NC_000006.12:g.45491974G>A | TOPMed,gnomAD |
rs770818987 | p.Ser243Cys | missense variant | - | NC_000006.12:g.45491983C>G | ExAC,gnomAD |
rs778901535 | p.Asp244Glu | missense variant | - | NC_000006.12:g.45491987C>A | ExAC,gnomAD |
rs1354561966 | p.Asp244His | missense variant | - | NC_000006.12:g.45491985G>C | TOPMed |
rs1201891556 | p.Arg245Cys | missense variant | - | NC_000006.12:g.45491988C>T | gnomAD |
rs1310889814 | p.Arg245His | missense variant | - | NC_000006.12:g.45491989G>A | TOPMed |
NCI-TCGA novel | p.Arg245Leu | missense variant | - | NC_000006.12:g.45491989G>T | NCI-TCGA |
rs745752587 | p.Leu246Pro | missense variant | - | NC_000006.12:g.45491992T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Ser247Ile | missense variant | - | NC_000006.12:g.45491995G>T | NCI-TCGA |
rs11498200 | p.Arg251Cys | missense variant | - | NC_000006.12:g.45492006C>T | ExAC,TOPMed,gnomAD |
rs11498200 | p.Arg251Ser | missense variant | - | NC_000006.12:g.45492006C>A | ExAC,TOPMed,gnomAD |
rs376891808 | p.Arg251His | missense variant | - | NC_000006.12:g.45492007G>A | ESP,ExAC,gnomAD |
rs377128508 | p.His254Arg | missense variant | - | NC_000006.12:g.45492016A>G | ESP,ExAC,gnomAD |
rs1158008972 | p.Pro255His | missense variant | - | NC_000006.12:g.45492019C>A | TOPMed |
rs776708490 | p.Ser256Thr | missense variant | - | NC_000006.12:g.45492022G>C | ExAC,TOPMed,gnomAD |
rs776708490 | p.Ser256Ile | missense variant | - | NC_000006.12:g.45492022G>T | ExAC,TOPMed,gnomAD |
rs1414370387 | p.Met257Thr | missense variant | - | NC_000006.12:g.45492025T>C | TOPMed |
rs1428685613 | p.Arg258Ile | missense variant | - | NC_000006.12:g.45492028G>T | gnomAD |
rs1466738996 | p.Val259Ile | missense variant | - | NC_000006.12:g.45492030G>A | TOPMed,gnomAD |
rs762058135 | p.Val261Ile | missense variant | - | NC_000006.12:g.45492036G>A | ExAC,gnomAD |
COSM1079815 | p.Val261Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45492037T>C | NCI-TCGA Cosmic |
rs563772449 | p.Pro263His | missense variant | - | NC_000006.12:g.45492043C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs563772449 | p.Pro263Leu | missense variant | - | NC_000006.12:g.45492043C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1221616975 | p.Asn265His | missense variant | - | NC_000006.12:g.45492048A>C | gnomAD |
rs1234937174 | p.Arg267Gln | missense variant | - | NC_000006.12:g.45492055G>A | gnomAD |
rs370486033 | p.Arg267Trp | missense variant | - | NC_000006.12:g.45492054C>T | ESP,ExAC,TOPMed,gnomAD |
rs766812325 | p.Pro268Arg | missense variant | - | NC_000006.12:g.45492058C>G | ExAC |
rs1190085215 | p.Asn271Asp | missense variant | - | NC_000006.12:g.45492066A>G | TOPMed |
rs1443448373 | p.Ala273Pro | missense variant | - | NC_000006.12:g.45492072G>C | TOPMed |
rs1443448373 | p.Ala273Thr | missense variant | - | NC_000006.12:g.45492072G>A | TOPMed |
rs1349550429 | p.Pro274Thr | missense variant | - | NC_000006.12:g.45492075C>A | gnomAD |
rs755578627 | p.Pro276Ser | missense variant | - | NC_000006.12:g.45492081C>T | ExAC,gnomAD |
rs1203966568 | p.Pro276Arg | missense variant | - | NC_000006.12:g.45492082C>G | TOPMed |
rs1463155276 | p.Asn278Ile | missense variant | - | NC_000006.12:g.45492088A>T | TOPMed |
rs1489516989 | p.Gln282Arg | missense variant | - | NC_000006.12:g.45492100A>G | gnomAD |
rs1033729267 | p.Asp287Gly | missense variant | - | NC_000006.12:g.45512246A>G | - |
RCV000482841 | p.Asp287Gly | missense variant | - | NC_000006.12:g.45512246A>G | ClinVar |
VAR_064105 | p.Asp287Asn | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1179560763 | p.Pro288Ser | missense variant | - | NC_000006.12:g.45512248C>T | gnomAD |
rs148326029 | p.Pro288Leu | missense variant | - | NC_000006.12:g.45512249C>T | ESP,ExAC,TOPMed,gnomAD |
rs1311296877 | p.Gln290Lys | missense variant | - | NC_000006.12:g.45512254C>A | gnomAD |
rs760143015 | p.Gln290His | missense variant | - | NC_000006.12:g.45512256G>C | ExAC,gnomAD |
rs1244922471 | p.Ala291Pro | missense variant | - | NC_000006.12:g.45512257G>C | gnomAD |
rs763466386 | p.Pro295Arg | missense variant | - | NC_000006.12:g.45512270C>G | ExAC,TOPMed,gnomAD |
rs763466386 | p.Pro295Leu | missense variant | - | NC_000006.12:g.45512270C>T | ExAC,TOPMed,gnomAD |
rs1554397657 | p.Pro296Ser | missense variant | - | NC_000006.12:g.45512272C>T | - |
RCV000507803 | p.Pro296Ser | missense variant | - | NC_000006.12:g.45512272C>T | ClinVar |
rs201584115 | p.Pro296Leu | missense variant | - | NC_000006.12:g.45512273C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000374592 | p.Pro296Leu | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45512273C>T | ClinVar |
rs104893988 | p.Trp297Ter | stop gained | - | NC_000006.12:g.45512277G>A | - |
RCV000009879 | p.Trp297Ter | nonsense | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45512277G>A | ClinVar |
rs370331024 | p.Asp300His | missense variant | - | NC_000006.12:g.45512284G>C | ESP,ExAC,TOPMed,gnomAD |
rs1447043793 | p.Asp300Val | missense variant | - | NC_000006.12:g.45512285A>T | gnomAD |
rs779939748 | p.Gln301Arg | missense variant | - | NC_000006.12:g.45512288A>G | ExAC,TOPMed,gnomAD |
rs758120505 | p.Gln301Glu | missense variant | - | NC_000006.12:g.45512287C>G | ExAC,TOPMed,gnomAD |
rs1312487890 | p.Ser302Phe | missense variant | - | NC_000006.12:g.45512291C>T | gnomAD |
rs746897678 | p.Ser302Ala | missense variant | - | NC_000006.12:g.45512290T>G | ExAC,gnomAD |
rs754963913 | p.Tyr303Phe | missense variant | - | NC_000006.12:g.45512294A>T | ExAC,gnomAD |
rs748242152 | p.Pro304Arg | missense variant | - | NC_000006.12:g.45512297C>G | ExAC,TOPMed,gnomAD |
rs781207125 | p.Pro304Ser | missense variant | - | NC_000006.12:g.45512296C>T | ExAC,TOPMed,gnomAD |
rs748242152 | p.Pro304Leu | missense variant | - | NC_000006.12:g.45512297C>T | ExAC,TOPMed,gnomAD |
rs769922027 | p.Ser305Cys | missense variant | - | NC_000006.12:g.45512300C>G | ExAC,gnomAD |
rs1199475592 | p.Tyr306Ser | missense variant | - | NC_000006.12:g.45512303A>C | gnomAD |
rs1181014657 | p.Ser308Arg | missense variant | - | NC_000006.12:g.45512310C>G | gnomAD |
rs1443036287 | p.Ser308Arg | missense variant | - | NC_000006.12:g.45512308A>C | gnomAD |
COSM6106996 | p.Gln309Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45512311C>G | NCI-TCGA Cosmic |
rs1414266851 | p.Met310Thr | missense variant | - | NC_000006.12:g.45512315T>C | gnomAD |
rs749565421 | p.Thr311Met | missense variant | - | NC_000006.12:g.45512318C>T | ExAC,TOPMed,gnomAD |
COSM4839324 | p.Ser312Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45512321C>T | NCI-TCGA Cosmic |
rs535706340 | p.Pro313Arg | missense variant | - | NC_000006.12:g.45512324C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs774805163 | p.Pro313Ala | missense variant | - | NC_000006.12:g.45512323C>G | ExAC,gnomAD |
rs535706340 | p.Pro313Gln | missense variant | - | NC_000006.12:g.45512324C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs535706340 | p.Pro313Leu | missense variant | - | NC_000006.12:g.45512324C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs776221631 | p.Ser314Pro | missense variant | - | NC_000006.12:g.45512326T>C | ExAC,gnomAD |
rs1451478006 | p.Ser314Phe | missense variant | - | NC_000006.12:g.45512327C>T | gnomAD |
rs761391105 | p.Thr318Ala | missense variant | - | NC_000006.12:g.45512338A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Thr318Ser | missense variant | - | NC_000006.12:g.45512338A>T | NCI-TCGA |
rs746114073 | p.Pro320Leu | missense variant | - | NC_000006.12:g.45512345C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu321AlaPheSerTerUnkUnk | frameshift | - | NC_000006.12:g.45512341_45512342insC | NCI-TCGA |
rs751400416 | p.Arg325Trp | missense variant | - | NC_000006.12:g.45512359C>T | ExAC,TOPMed,gnomAD |
COSM5870801 | p.Arg325Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45512360G>A | NCI-TCGA Cosmic |
rs1476037778 | p.Gly326Ser | missense variant | - | NC_000006.12:g.45512362G>A | TOPMed |
rs143092997 | p.Gly326Val | missense variant | - | NC_000006.12:g.45512363G>T | ESP,ExAC,gnomAD |
rs781096197 | p.Pro330His | missense variant | - | NC_000006.12:g.45512375C>A | ExAC,gnomAD |
rs1382629082 | p.Pro330Ser | missense variant | - | NC_000006.12:g.45512374C>T | TOPMed,gnomAD |
rs114554762 | p.Ala331Asp | missense variant | - | NC_000006.12:g.45512378C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs114554762 | p.Ala331Gly | missense variant | - | NC_000006.12:g.45512378C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala331Val | missense variant | - | NC_000006.12:g.45512378C>T | NCI-TCGA |
rs749426825 | p.Asp334Ala | missense variant | - | NC_000006.12:g.45512387A>C | ExAC,gnomAD |
rs373752642 | p.Asp334Asn | missense variant | - | NC_000006.12:g.45512386G>A | ESP,ExAC,TOPMed,gnomAD |
rs373752642 | p.Asp334His | missense variant | - | NC_000006.12:g.45512386G>C | ESP,ExAC,TOPMed,gnomAD |
rs749426825 | p.Asp334Gly | missense variant | - | NC_000006.12:g.45512387A>G | ExAC,gnomAD |
rs1426595686 | p.Val335Ala | missense variant | - | NC_000006.12:g.45512390T>C | TOPMed,gnomAD |
rs771219239 | p.Val335Met | missense variant | - | NC_000006.12:g.45512389G>A | ExAC,gnomAD |
rs1366398692 | p.Pro336Leu | missense variant | - | NC_000006.12:g.45512393C>T | TOPMed,gnomAD |
COSM345850 | p.Arg337Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45512396G>T | NCI-TCGA Cosmic |
rs779082630 | p.Arg338Cys | missense variant | - | NC_000006.12:g.45512398C>T | ExAC,TOPMed,gnomAD |
rs367898326 | p.Arg338His | missense variant | - | NC_000006.12:g.45512399G>A | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg338Gly | missense variant | - | NC_000006.12:g.45512398C>G | NCI-TCGA |
COSM3830656 | p.Ser340Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000006.12:g.45512405C>A | NCI-TCGA Cosmic |
rs1388460369 | p.Asp341Glu | missense variant | - | NC_000006.12:g.45545218T>A | TOPMed |
rs1369927853 | p.Asp341Gly | missense variant | - | NC_000006.12:g.45545217A>G | gnomAD |
COSM1079821 | p.Asp341Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45512407G>T | NCI-TCGA Cosmic |
rs1222286451 | p.Asp342Asn | missense variant | - | NC_000006.12:g.45545219G>A | gnomAD |
rs1354211513 | p.Thr344Ile | missense variant | - | NC_000006.12:g.45545226C>T | gnomAD |
rs1289456738 | p.Pro353Ser | missense variant | - | NC_000006.12:g.45545252C>T | gnomAD |
rs1254496350 | p.Pro353Leu | missense variant | - | NC_000006.12:g.45545253C>T | gnomAD |
rs1450988498 | p.Thr355Ala | missense variant | - | NC_000006.12:g.45545258A>G | gnomAD |
rs1468281184 | p.Ser360Gly | missense variant | - | NC_000006.12:g.45545273A>G | gnomAD |
rs1177692351 | p.Ser360Thr | missense variant | - | NC_000006.12:g.45545274G>C | gnomAD |
rs1297710073 | p.Gln361Leu | missense variant | - | NC_000006.12:g.45545277A>T | TOPMed |
VAR_064106 | p.Ala362Val | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
COSM742793 | p.Glu366Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000006.12:g.45546835G>T | NCI-TCGA Cosmic |
rs140165241 | p.Leu367Val | missense variant | - | NC_000006.12:g.45546838C>G | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Gly368AlaPheSerTerUnkUnkUnk | frameshift | - | NC_000006.12:g.45546840G>- | NCI-TCGA |
rs767251365 | p.Pro369Arg | missense variant | - | NC_000006.12:g.45546845C>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asp372Tyr | missense variant | - | NC_000006.12:g.45546853G>T | NCI-TCGA |
NCI-TCGA novel | p.Asp372Val | missense variant | - | NC_000006.12:g.45546854A>T | NCI-TCGA |
rs1401233132 | p.Pro373Arg | missense variant | - | NC_000006.12:g.45546857C>G | gnomAD |
rs752525068 | p.Ser378Gly | missense variant | - | NC_000006.12:g.45546871A>G | ExAC,gnomAD |
rs760543307 | p.Ser378Arg | missense variant | - | NC_000006.12:g.45546873C>A | ExAC,gnomAD |
rs1339712379 | p.Ser380Leu | missense variant | - | NC_000006.12:g.45546878C>T | gnomAD |
rs1341793914 | p.Ser381Phe | missense variant | - | NC_000006.12:g.45546881C>T | TOPMed |
rs757351966 | p.Arg386His | missense variant | - | NC_000006.12:g.45546896G>A | ExAC,TOPMed,gnomAD |
rs753780685 | p.Arg386Cys | missense variant | - | NC_000006.12:g.45546895C>T | ExAC,TOPMed,gnomAD |
rs1388215851 | p.Asn389His | missense variant | - | NC_000006.12:g.45546904A>C | TOPMed |
rs115347084 | p.Asn389Ser | missense variant | - | NC_000006.12:g.45546905A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro390Ser | missense variant | - | NC_000006.12:g.45546907C>T | NCI-TCGA |
rs780524636 | p.Arg391Gln | missense variant | - | NC_000006.12:g.45546911G>A | ExAC,gnomAD |
rs397515537 | p.Arg391Ter | stop gained | - | NC_000006.12:g.45546910C>T | - |
RCV000055836 | p.Arg391Ter | nonsense | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45546910C>T | ClinVar |
rs1461715414 | p.Tyr394Asp | missense variant | - | NC_000006.12:g.45546919T>G | TOPMed |
rs747380594 | p.Tyr394Phe | missense variant | - | NC_000006.12:g.45546920A>T | ExAC,gnomAD |
rs755482498 | p.Pro395Gln | missense variant | - | NC_000006.12:g.45546923C>A | ExAC,gnomAD |
rs1022790945 | p.Ala396Val | missense variant | - | NC_000006.12:g.45546926C>T | gnomAD |
rs1477135017 | p.Tyr400Cys | missense variant | - | NC_000006.12:g.45546938A>G | gnomAD |
VAR_079579 | p.Tyr400_Tyr521del | inframe_deletion | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs748644984 | p.Thr401Pro | missense variant | - | NC_000006.12:g.45546940A>C | ExAC,gnomAD |
rs770452837 | p.Pro402Leu | missense variant | - | NC_000006.12:g.45546944C>T | ExAC,gnomAD |
rs376694142 | p.Pro403Leu | missense variant | - | NC_000006.12:g.45546947C>T | ESP,ExAC,TOPMed,gnomAD |
RCV000009884 | p.Pro403Ter | frameshift | Cleidocranial dysplasia, severe, with osteoporosis and scoliosis | NC_000006.12:g.45546944dup | ClinVar |
rs1269813407 | p.Gly407Cys | missense variant | - | NC_000006.12:g.45546958G>T | TOPMed |
rs1032694844 | p.Met408Val | missense variant | - | NC_000006.12:g.45546961A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Leu410Phe | missense variant | - | NC_000006.12:g.45546967C>T | NCI-TCGA |
RCV000009891 | p.Leu410Ter | frameshift | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45546967dup | ClinVar |
rs1338264589 | p.Gly411Val | missense variant | - | NC_000006.12:g.45546971G>T | gnomAD |
rs763860044 | p.Ala414Thr | missense variant | - | NC_000006.12:g.45546979G>A | ExAC,TOPMed,gnomAD |
COSM3874472 | p.Thr415Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45546982A>G | NCI-TCGA Cosmic |
rs1024556116 | p.Thr416Ser | missense variant | - | NC_000006.12:g.45546986C>G | TOPMed |
rs1319458779 | p.His417Asp | missense variant | - | NC_000006.12:g.45546988C>G | gnomAD |
VAR_064108 | p.Thr420Asn | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
VAR_064107 | p.Thr420Ile | Missense | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1255011742 | p.Tyr421Phe | missense variant | - | NC_000006.12:g.45547001A>T | TOPMed,gnomAD |
rs1345306388 | p.Leu422Met | missense variant | - | NC_000006.12:g.45547003C>A | gnomAD |
NCI-TCGA novel | p.Pro424Gln | missense variant | - | NC_000006.12:g.45547010C>A | NCI-TCGA |
rs761701398 | p.Pro425Leu | missense variant | - | NC_000006.12:g.45547013C>T | ExAC,gnomAD |
rs1305087594 | p.Pro425Thr | missense variant | - | NC_000006.12:g.45547012C>A | TOPMed |
NCI-TCGA novel | p.Pro425Ser | missense variant | - | NC_000006.12:g.45547012C>T | NCI-TCGA |
RCV000486764 | p.Tyr426Ter | frameshift | - | NC_000006.12:g.45547014dup | ClinVar |
rs765308202 | p.Pro427Leu | missense variant | - | NC_000006.12:g.45547019C>T | ExAC,gnomAD |
rs758626590 | p.Gly428Ser | missense variant | - | NC_000006.12:g.45547021G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly428Asp | missense variant | - | NC_000006.12:g.45547022G>A | NCI-TCGA |
rs1196892781 | p.Gln431Arg | missense variant | - | NC_000006.12:g.45547031A>G | gnomAD |
rs144760627 | p.Ser432Arg | missense variant | - | NC_000006.12:g.45547035C>A | ESP,TOPMed |
rs1377237744 | p.Gln433Arg | missense variant | - | NC_000006.12:g.45547037A>G | gnomAD |
rs1210047580 | p.Ser434Asn | missense variant | - | NC_000006.12:g.45547040G>A | gnomAD |
rs1172059142 | p.Pro436Ser | missense variant | - | NC_000006.12:g.45547045C>T | TOPMed |
rs751887748 | p.Pro436Leu | missense variant | - | NC_000006.12:g.45547046C>T | ExAC,TOPMed,gnomAD |
rs751887748 | p.Pro436His | missense variant | - | NC_000006.12:g.45547046C>A | ExAC,TOPMed,gnomAD |
rs748640088 | p.Thr439Pro | missense variant | - | NC_000006.12:g.45547054A>C | ExAC,gnomAD |
rs748640088 | p.Thr439Ala | missense variant | - | NC_000006.12:g.45547054A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Thr439Asn | missense variant | - | NC_000006.12:g.45547055C>A | NCI-TCGA |
rs974164696 | p.Ser441Arg | missense variant | - | NC_000006.12:g.45547062C>A | TOPMed,gnomAD |
rs974164696 | p.Ser441Arg | missense variant | - | NC_000006.12:g.45547062C>G | TOPMed,gnomAD |
COSM742791 | p.Thr442Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45547064C>G | NCI-TCGA Cosmic |
rs1180944672 | p.Leu445Val | missense variant | - | NC_000006.12:g.45547072C>G | TOPMed |
COSM1079823 | p.Leu445Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45547072C>A | NCI-TCGA Cosmic |
rs1384517929 | p.Gly448Cys | missense variant | - | NC_000006.12:g.45547081G>T | TOPMed,gnomAD |
rs369481795 | p.Ser450Leu | missense variant | - | NC_000006.12:g.45547088C>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser450Ter | stop gained | - | NC_000006.12:g.45547088C>A | NCI-TCGA |
NCI-TCGA novel | p.Ser450TyrPheSerTerUnkUnk | frameshift | - | NC_000006.12:g.45547087_45547088insA | NCI-TCGA |
rs1235041904 | p.Gly452Arg | missense variant | - | NC_000006.12:g.45547093G>C | TOPMed,gnomAD |
rs771630924 | p.Ser453Phe | missense variant | - | NC_000006.12:g.45547097C>T | ExAC,gnomAD |
rs1234539221 | p.Tyr454His | missense variant | - | NC_000006.12:g.45547099T>C | TOPMed |
rs1216479084 | p.Tyr454Cys | missense variant | - | NC_000006.12:g.45547100A>G | TOPMed,gnomAD |
rs1216479084 | p.Tyr454Phe | missense variant | - | NC_000006.12:g.45547100A>T | TOPMed,gnomAD |
rs1182756497 | p.Gln455Pro | missense variant | - | NC_000006.12:g.45547103A>C | gnomAD |
NCI-TCGA novel | p.Gln455Glu | missense variant | - | NC_000006.12:g.45547102C>G | NCI-TCGA |
rs1306807681 | p.Phe456Leu | missense variant | - | NC_000006.12:g.45547105T>C | TOPMed |
rs775121825 | p.Phe456Leu | missense variant | - | NC_000006.12:g.45547107T>G | ExAC,gnomAD |
rs932622541 | p.Pro457Leu | missense variant | - | NC_000006.12:g.45547109C>T | TOPMed |
rs746700872 | p.Pro457Ser | missense variant | - | NC_000006.12:g.45547108C>T | ExAC,gnomAD |
rs768473049 | p.Pro460Leu | missense variant | - | NC_000006.12:g.45547118C>T | ExAC,TOPMed,gnomAD |
RCV000784916 | p.Pro460Leu | missense variant | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45547118C>T | ClinVar |
NCI-TCGA novel | p.Pro460Ser | missense variant | - | NC_000006.12:g.45547117C>T | NCI-TCGA |
RCV000784915 | p.Pro460Leu | missense variant | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) | NC_000006.12:g.45547118C>T | ClinVar |
rs554124503 | p.Gly461Ala | missense variant | - | NC_000006.12:g.45547121G>C | 1000Genomes,ExAC,gnomAD |
rs765089321 | p.Gly461Arg | missense variant | - | NC_000006.12:g.45547120G>C | ExAC,TOPMed,gnomAD |
COSM214471 | p.Gly462GluPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000006.12:g.45547119G>- | NCI-TCGA Cosmic |
VAR_079580 | p.Gly462_Tyr521del | inframe_deletion | Cleidocranial dysplasia (CLCD) [MIM:119600] | - | UniProt |
rs1378225599 | p.Asp463Asn | missense variant | - | NC_000006.12:g.45547126G>A | gnomAD |
rs148639759 | p.Arg464Gln | missense variant | - | NC_000006.12:g.45547130G>A | ESP,ExAC,gnomAD |
rs148639759 | p.Arg464Leu | missense variant | - | NC_000006.12:g.45547130G>T | ESP,ExAC,gnomAD |
rs373218126 | p.Arg464Trp | missense variant | - | NC_000006.12:g.45547129C>T | ESP,ExAC,TOPMed,gnomAD |
rs751811026 | p.Pro466Ser | missense variant | - | NC_000006.12:g.45547135C>T | ExAC,TOPMed,gnomAD |
rs142108189 | p.Pro471Leu | missense variant | - | NC_000006.12:g.45547151C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1173869662 | p.Pro472Leu | missense variant | - | NC_000006.12:g.45547154C>T | gnomAD |
rs1319186519 | p.Thr476Ile | missense variant | - | NC_000006.12:g.45547166C>T | TOPMed,gnomAD |
rs1310470522 | p.Thr476Ala | missense variant | - | NC_000006.12:g.45547165A>G | gnomAD |
NCI-TCGA novel | p.Thr476Asn | missense variant | - | NC_000006.12:g.45547166C>A | NCI-TCGA |
COSM1079825 | p.Ser477Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45547169C>T | NCI-TCGA Cosmic |
rs746611102 | p.Gly479Val | missense variant | - | NC_000006.12:g.45547175G>T | ExAC,gnomAD |
rs1215754855 | p.Ser480Asn | missense variant | - | NC_000006.12:g.45547178G>A | gnomAD |
rs780973109 | p.Thr481Met | missense variant | - | NC_000006.12:g.45547181C>T | ExAC,TOPMed,gnomAD |
rs768220317 | p.Thr481Ala | missense variant | - | NC_000006.12:g.45547180A>G | ExAC,gnomAD |
COSM1079827 | p.Leu482AlaPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000006.12:g.45547181_45547182insG | NCI-TCGA Cosmic |
rs1421970328 | p.Pro485Thr | missense variant | - | NC_000006.12:g.45547192C>A | TOPMed,gnomAD |
rs773277224 | p.Pro485Gln | missense variant | - | NC_000006.12:g.45547193C>A | ExAC,gnomAD |
rs1421970328 | p.Pro485Ser | missense variant | - | NC_000006.12:g.45547192C>T | TOPMed,gnomAD |
rs1041952480 | p.Pro488Ser | missense variant | - | NC_000006.12:g.45547201C>T | TOPMed,gnomAD |
rs1445706105 | p.Gly493Ser | missense variant | - | NC_000006.12:g.45547216G>A | TOPMed |
rs771087017 | p.Asp495Asn | missense variant | - | NC_000006.12:g.45547222G>A | ExAC,TOPMed,gnomAD |
rs774604105 | p.Ala496Val | missense variant | - | NC_000006.12:g.45547226C>T | ExAC,gnomAD |
rs759738332 | p.Asp497Asn | missense variant | - | NC_000006.12:g.45547228G>A | ExAC,gnomAD |
rs1322886581 | p.Gly498Glu | missense variant | - | NC_000006.12:g.45547232G>A | gnomAD |
rs1312686830 | p.Gly498Arg | missense variant | - | NC_000006.12:g.45547231G>A | gnomAD |
NCI-TCGA novel | p.Ser503Phe | missense variant | - | NC_000006.12:g.45547247C>T | NCI-TCGA |
COSM1079829 | p.Ser503Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000006.12:g.45547247C>A | NCI-TCGA Cosmic |
rs753025447 | p.Thr505Ala | missense variant | - | NC_000006.12:g.45547252A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Val506Phe | missense variant | - | NC_000006.12:g.45547255G>T | NCI-TCGA |
rs1199568242 | p.Leu507Met | missense variant | - | NC_000006.12:g.45547258T>A | gnomAD |
NCI-TCGA novel | p.Ser509Tyr | missense variant | - | NC_000006.12:g.45547265C>A | NCI-TCGA |
rs1401522703 | p.Ser510Asn | missense variant | - | NC_000006.12:g.45547268G>A | TOPMed |
rs11498198 | p.Gly511Arg | missense variant | - | NC_000006.12:g.45547270G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs11498198 | p.Gly511Ser | missense variant | - | NC_000006.12:g.45547270G>A | UniProt,dbSNP |
VAR_012150 | p.Gly511Ser | missense variant | - | NC_000006.12:g.45547270G>A | UniProt |
rs11498198 | p.Gly511Ser | missense variant | - | NC_000006.12:g.45547270G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs11498198 | p.Gly511Cys | missense variant | - | NC_000006.12:g.45547270G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly511Asp | missense variant | - | NC_000006.12:g.45547271G>A | NCI-TCGA |
RCV000506710 | p.Gly511Ser | missense variant | - | NC_000006.12:g.45547270G>A | ClinVar |
rs754318665 | p.Met513Thr | missense variant | - | NC_000006.12:g.45547277T>C | ExAC,gnomAD |
rs1256708103 | p.Asp514Asn | missense variant | - | NC_000006.12:g.45547279G>A | gnomAD |
NCI-TCGA novel | p.Asp514Gly | missense variant | - | NC_000006.12:g.45547280A>G | NCI-TCGA |
NCI-TCGA novel | p.Asp514Glu | missense variant | - | NC_000006.12:g.45547281T>G | NCI-TCGA |
NCI-TCGA novel | p.Val517Ala | missense variant | - | NC_000006.12:g.45547289T>C | NCI-TCGA |
rs1362755731 | p.Trp518Cys | missense variant | - | NC_000006.12:g.45547293G>T | TOPMed,gnomAD |
rs1218682510 | p.Arg519Gln | missense variant | - | NC_000006.12:g.45547295G>A | gnomAD |
rs104893994 | p.Ter522Ser | stop lost | - | NC_000006.12:g.45547304G>C | - |
RCV000009889 | p.Ter522Ser | stop lost | Cleidocranial dysostosis (CCD) | NC_000006.12:g.45547304G>C | ClinVar |
NCI-TCGA novel | p.Ter522LeuGluUnkThrTerUnkUnk | stop lost | - | NC_000006.12:g.45547304G>T | NCI-TCGA |
Disease ID | Disease Name | Disease Type | Source |
---|---|---|---|
C0000768 | Congenital Abnormality | group | BEFREE |
C0001418 | Adenocarcinoma | group | BEFREE |
C0002895 | Anemia, Sickle Cell | disease | BEFREE |
C0003130 | Anoxia | phenotype | LHGDN |
C0003507 | Aortic Valve Stenosis | disease | BEFREE |
C0003864 | Arthritis | disease | BEFREE |
C0003872 | Arthritis, Psoriatic | disease | CTD_human |
C0003873 | Rheumatoid Arthritis | disease | CTD_human |
C0005938 | Bone Density | phenotype | GWASCAT |
C0005940 | Bone Diseases | group | BEFREE;LHGDN |
C0005967 | Bone neoplasms | group | BEFREE |
C0006142 | Malignant neoplasm of breast | disease | BEFREE |
C0006826 | Malignant Neoplasms | group | BEFREE |
C0007102 | Malignant tumor of colon | disease | BEFREE |
C0007115 | Malignant neoplasm of thyroid | disease | BEFREE |
C0007131 | Non-Small Cell Lung Carcinoma | disease | BEFREE |
C0007133 | Carcinoma, Papillary | disease | BEFREE;LHGDN |
C0008479 | Chondrosarcoma | disease | BEFREE;LHGDN |
C0008626 | Congenital chromosomal disease | group | BEFREE |
C0008925 | Cleft Palate | disease | BEFREE |
C0008928 | Cleidocranial Dysplasia | disease | BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT |
C0009319 | Colitis | disease | BEFREE |
C0009375 | Colonic Neoplasms | group | BEFREE |
C0009402 | Colorectal Carcinoma | disease | BEFREE |
C0010278 | Craniosynostosis | disease | BEFREE;GENOMICS_ENGLAND |
C0010308 | Congenital Hypothyroidism | disease | MGD |
C0011053 | Deafness | phenotype | HPO |
C0011334 | Dental caries | disease | BEFREE;HPO |
C0011351 | Dental Enamel Hypoplasia | disease | HPO |
C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | BEFREE |
C0015230 | Exanthema | phenotype | BEFREE |
C0016063 | Osteitis Fibrosa Disseminata | disease | BEFREE |
C0017636 | Glioblastoma | disease | BEFREE |
C0017638 | Glioma | disease | BEFREE |
C0018772 | Hearing Loss, Partial | phenotype | HPO |
C0018799 | Heart Diseases | group | BEFREE |
C0020456 | Hyperglycemia | disease | BEFREE |
C0020492 | Hyperostosis | disease | BEFREE |
C0020534 | Orbital separation excessive | phenotype | HPO |
C0022821 | Kyphosis deformity of spine | phenotype | HPO |
C0023418 | leukemia | disease | BEFREE |
C0023467 | Leukemia, Myelocytic, Acute | disease | BEFREE |
C0023487 | Acute Promyelocytic Leukemia | disease | BEFREE |
C0024121 | Lung Neoplasms | group | BEFREE |
C0024299 | Lymphoma | group | BEFREE |
C0024591 | Malignant hyperpyrexia due to anesthesia | disease | BEFREE |
C0024623 | Malignant neoplasm of stomach | disease | BEFREE |
C0024899 | Mastocytosis | disease | BEFREE |
C0025202 | melanoma | disease | BEFREE |
C0025990 | Micrognathism | disease | HPO |
C0026470 | Monoclonal Gammopathy of Undetermined Significance | disease | BEFREE |
C0026764 | Multiple Myeloma | disease | BEFREE;LHGDN |
C0027627 | Neoplasm Metastasis | phenotype | BEFREE;LHGDN |
C0027651 | Neoplasms | group | BEFREE |
C0027819 | Neuroblastoma | group | BEFREE |
C0028259 | Nodule | phenotype | BEFREE |
C0029396 | Heterotopic Ossification | phenotype | LHGDN |
C0029408 | Degenerative polyarthritis | disease | BEFREE;CTD_human |
C0029417 | Osteoblastoma | disease | BEFREE |
C0029422 | Osteochondrodysplasias | group | BEFREE;HPO |
C0029434 | Osteogenesis Imperfecta | disease | GENOMICS_ENGLAND |
C0029441 | Osteoid osteoma | disease | BEFREE |
C0029453 | Osteopenia | disease | BEFREE |
C0029456 | Osteoporosis | disease | BEFREE;HPO;LHGDN |
C0029463 | Osteosarcoma | disease | BEFREE;CTD_human;LHGDN |
C0029464 | Osteosclerosis | disease | HPO |
C0029925 | Ovarian Carcinoma | disease | BEFREE |
C0030469 | Paranasal Sinus Diseases | group | HPO |
C0032019 | Pituitary Neoplasms | group | BEFREE |
C0032339 | Rothmund-Thomson syndrome | disease | BEFREE |
C0033578 | Prostatic Neoplasms | group | BEFREE;LHGDN |
C0033581 | prostatitis | disease | BEFREE |
C0035078 | Kidney Failure | disease | BEFREE |
C0035335 | Retinoblastoma | disease | BEFREE |
C0035372 | Rett Syndrome | disease | BEFREE |
C0036439 | Scoliosis, unspecified | phenotype | BEFREE |
C0037199 | Sinusitis | disease | HPO |
C0037932 | Curvature of spine | phenotype | HPO |
C0038016 | Spondylolisthesis | phenotype | HPO |
C0038018 | Spondylolysis | disease | HPO |
C0039144 | Syringomyelia | disease | HPO |
C0040136 | Thyroid Neoplasm | disease | BEFREE |
C0040427 | Tooth Abnormalities | group | CTD_human |
C0040457 | Tooth, Supernumerary | phenotype | HPO |
C0041948 | Uremia | disease | BEFREE;CTD_human |
C0042769 | Virus Diseases | group | BEFREE |
C0080174 | Spina Bifida Occulta | disease | HPO |
C0086743 | Osteoarthrosis Deformans | disease | CTD_human |
C0152013 | Adenocarcinoma of lung (disorder) | disease | BEFREE |
C0152244 | Bone Cysts, Aneurysmal | disease | BEFREE |
C0153690 | Secondary malignant neoplasm of bone | disease | BEFREE |
C0158779 | Cervical rib | disease | HPO |
C0175699 | Saethre-Chotzen Syndrome | disease | BEFREE |
C0178874 | Tumor Progression | phenotype | BEFREE |
C0205647 | Follicular adenoma | disease | BEFREE |
C0206638 | Giant Cell Tumor of Bone | disease | BEFREE |
C0206640 | Ossifying Fibroma | disease | BEFREE |
C0220620 | Gastrointestinal Carcinoid Tumor | disease | BEFREE |
C0220658 | Pfeiffer Syndrome | disease | BEFREE |
C0221354 | Frontal bossing | disease | HPO |
C0221357 | Brachydactyly | disease | HPO |
C0232513 | Premature tooth loss | phenotype | HPO |
C0235974 | Pancreatic carcinoma | disease | BEFREE |
C0238463 | Papillary thyroid carcinoma | disease | BEFREE |
C0239138 | Hip joint varus deformity - observation | phenotype | HPO |
C0239174 | Late tooth eruption | phenotype | HPO |
C0240310 | Hypoplasia of the maxilla | disease | HPO |
C0240538 | Convex nasal ridge | phenotype | HPO |
C0240635 | Byzanthine arch palate | disease | HPO |
C0243057 | Stomatognathic System Abnormalities | group | CTD_human |
C0259779 | Fibrous Dysplasia | disease | BEFREE |
C0263661 | Disorder of skeletal system | group | BEFREE |
C0265294 | Pyle metaphyseal dysplasia | disease | HPO |
C0266061 | Open Bite | phenotype | HPO |
C0271441 | Chronic otitis media | disease | HPO |
C0278488 | Carcinoma breast stage IV | disease | BEFREE |
C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | disease | BEFREE |
C0279530 | Malignant Bone Neoplasm | disease | BEFREE |
C0280100 | Solid Neoplasm | phenotype | BEFREE |
C0302501 | Mandibular hyperplasia | phenotype | HPO |
C0333519 | Caries (morphologic abnormality) | disease | BEFREE |
C0334041 | Osteoma cutis | disease | BEFREE |
C0339789 | Congenital deafness | disease | HPO |
C0342200 | Endemic Cretinism | disease | MGD |
C0345904 | Malignant neoplasm of liver | disease | BEFREE |
C0346647 | Malignant neoplasm of pancreas | disease | BEFREE |
C0346957 | Disseminated Malignant Neoplasm | phenotype | BEFREE |
C0349588 | Short stature | phenotype | HPO |
C0376358 | Malignant neoplasm of prostate | disease | BEFREE |
C0376634 | Craniofacial Abnormalities | group | BEFREE;CTD_human |
C0399385 | Early tooth exfoliation | disease | HPO |
C0399526 | Class III malocclusion | disease | HPO |
C0410528 | Skeletal dysplasia | disease | BEFREE |
C0424295 | Hyperactive behavior | phenotype | BEFREE |
C0426790 | Narrow thorax | phenotype | HPO |
C0426799 | Congenital hypoplasia of clavicle | disease | BEFREE;HPO |
C0426817 | Short ribs | phenotype | HPO |
C0432073 | Defect of skull ossification | group | HPO |
C0456132 | Large fontanelle | phenotype | HPO |
C0494165 | Secondary malignant neoplasm of liver | disease | BEFREE |
C0524730 | Odontome | disease | CTD_human |
C0549473 | Thyroid carcinoma | disease | BEFREE |
C0578038 | Thin lips | phenotype | HPO |
C0585442 | Osteosarcoma of bone | disease | BEFREE |
C0596263 | Carcinogenesis | phenotype | BEFREE |
C0598766 | Leukemogenesis | disease | BEFREE |
C0600139 | Prostate carcinoma | disease | BEFREE |
C0677886 | Epithelial ovarian cancer | disease | BEFREE |
C0678222 | Breast Carcinoma | disease | BEFREE |
C0686619 | Secondary malignant neoplasm of lymph node | disease | BEFREE |
C0686761 | Lack of bone formation | phenotype | BEFREE |
C0699790 | Colon Carcinoma | disease | BEFREE |
C0700095 | Central neuroblastoma | disease | BEFREE |
C0700208 | Acquired scoliosis | phenotype | BEFREE;HPO |
C0740421 | Postsurgical menopause | disease | BEFREE |
C0740749 | Chronic metabolic acidosis | disease | BEFREE |
C0743359 | Chronic ear infection | disease | HPO |
C0751606 | Adult Acute Lymphocytic Leukemia | disease | BEFREE |
C0751951 | Central Core Myopathy (disorder) | disease | BEFREE |
C0853879 | Invasive carcinoma of breast | disease | BEFREE |
C0858252 | Breast adenocarcinoma | disease | BEFREE |
C0862878 | Dedifferentiated chondrosarcoma | disease | BEFREE |
C0936223 | Metastatic Prostate Carcinoma | disease | BEFREE |
C0936248 | Chondroma | disease | LHGDN |
C0949690 | Spondylarthritis | disease | CTD_human |
C1140680 | Malignant neoplasm of ovary | disease | BEFREE |
C1145670 | Respiratory Failure | disease | BEFREE |
C1260873 | Aortic valve disorder | group | BEFREE |
C1282496 | Metastasis from malignant tumor of prostate | disease | BEFREE |
C1301034 | Pancreatic intraepithelial neoplasia | disease | BEFREE |
C1306459 | Primary malignant neoplasm | group | BEFREE |
C1319315 | Adenocarcinoma of large intestine | disease | BEFREE |
C1332986 | Childhood Osteosarcoma | disease | BEFREE |
C1335302 | Pancreatic Ductal Adenocarcinoma | disease | BEFREE |
C1335473 | Primary chondrosarcoma of bone | disease | BEFREE |
C1384666 | hearing impairment | phenotype | HPO |
C1390474 | Increased susceptibility to fractures | phenotype | HPO |
C1398312 | Narrow palate | phenotype | HPO |
C1458155 | Mammary Neoplasms | group | BEFREE;LHGDN |
C1511789 | Desmoplastic | disease | BEFREE |
C1519670 | Tumor Angiogenesis | phenotype | BEFREE |
C1527249 | Colorectal Cancer | disease | BEFREE |
C1654637 | androgen independent prostate cancer | disease | BEFREE |
C1834060 | Short middle phalanx of the 5th finger | phenotype | HPO |
C1834969 | Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly | disease | BEFREE;CTD_human |
C1836184 | Short femoral neck | phenotype | HPO |
C1836542 | Depressed nasal bridge | phenotype | HPO |
C1837078 | Hypoplastic inferior ilia | phenotype | HPO |
C1837404 | High, narrow palate | phenotype | HPO |
C1838416 | CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY | disease | CLINVAR;UNIPROT |
C1842083 | Abnormality of the ribs | phenotype | HPO |
C1844508 | Large foramen magnum | phenotype | HPO |
C1844704 | Platyspondyly | phenotype | HPO |
C1845112 | Hyperkyphosis | phenotype | HPO |
C1846434 | Hypoplastic scapulae | phenotype | HPO |
C1849537 | Persistent open anterior fontanelle | phenotype | HPO |
C1849538 | Delayed eruption of primary teeth | phenotype | HPO |
C1849540 | Delayed eruption of permanent teeth | phenotype | HPO |
C1850135 | Flared metaphysis | phenotype | HPO |
C1851854 | Thin dental enamel | phenotype | HPO |
C1853195 | Prostate Cancer, Hereditary, 7 | disease | BEFREE |
C1853242 | Midface retrusion | phenotype | HPO |
C1855669 | Absent frontal sinuses | phenotype | HPO |
C1856872 | Down-sloping shoulders | phenotype | HPO |
C1857126 | Parietal bossing | phenotype | HPO |
C1857130 | Hypoplastic mandible condyle | phenotype | HPO |
C1857131 | Absent paranasal sinuses | phenotype | HPO |
C1857190 | Wide pubic symphysis | phenotype | HPO |
C1857665 | Aplastic clavicles | phenotype | HPO |
C1857679 | Sloping forehead | phenotype | HPO |
C1858085 | Malar flattening | phenotype | HPO |
C1858452 | Thickened calvaria | phenotype | HPO |
C1859480 | Cone-shaped epiphyses of the phalanges of the hand | phenotype | HPO |
C1859682 | Hypoplastic frontal sinuses | phenotype | HPO |
C1861324 | Short philtrum | phenotype | HPO |
C1861388 | Short 5th metacarpal | phenotype | HPO |
C1861516 | Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly | disease | CLINVAR;UNIPROT |
C1861517 | Abnormal facility in opposing the shoulders | phenotype | HPO |
C1861519 | Moderately short stature | phenotype | HPO |
C1861528 | Delayed mineralization of pubic bone | phenotype | HPO |
C1861531 | Long second metacarpal | phenotype | HPO |
C1861923 | Acampomelic Campomelic Dysplasia | disease | BEFREE |
C1862140 | Brachydactyly type A3 | disease | HPO |
C1865027 | Hypoplastic iliac wing | phenotype | HPO |
C1866710 | Delayed pubic bone ossification | phenotype | HPO |
C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | disease | BEFREE |
C2227134 | mandibular excess (physical finding) | phenotype | HPO |
C2239176 | Liver carcinoma | disease | BEFREE |
C2673410 | Small midface | phenotype | HPO |
C2699510 | Split-Hand/Foot Malformation | disease | BEFREE |
C2936258 | Peri-Implantitis | disease | BEFREE |
C2981150 | Uranostaphyloschisis | disease | BEFREE;HPO |
C3463824 | MYELODYSPLASTIC SYNDROME | group | BEFREE |
C3549874 | METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY | disease | BEFREE;ORPHANET |
C3550546 | Depressed nasal root/bridge | phenotype | HPO |
C3714756 | Intellectual Disability | group | GENOMICS_ENGLAND |
C3714948 | PACHYONYCHIA CONGENITA 3 | disease | BEFREE |
C3804986 | Aplasia of paranasal sinuses | disease | HPO |
C3806482 | Recurrent respiratory infections | phenotype | HPO |
C3888088 | SMITH-MCCORT DYSPLASIA 1 | disease | BEFREE |
C4016655 | CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS | phenotype | CLINVAR |
C4021242 | Hypoplasia of the zygomatic bone | phenotype | HPO |
C4021435 | Short middle phalanx of the 2nd finger | phenotype | HPO |
C4021785 | Abnormality of the metacarpal bones | phenotype | HPO |
C4021790 | Abnormality of the skeletal system | phenotype | BEFREE |
C4021800 | Abnormality of dental enamel | phenotype | HPO |
C4023457 | Short face | phenotype | HPO |
C4024589 | Aplasia/Hypoplasia of the mandible | phenotype | HPO |
C4025119 | Multiple small vertebral fractures | phenotype | HPO |
C4025170 | Osteoporosis of vertebrae | disease | HPO |
C4025250 | Abnormality of the sacrum | phenotype | HPO |
C4072820 | Large bregma sutures | phenotype | HPO |
C4072821 | Large, late-closing fontanelle | phenotype | HPO |
C4072822 | Wide bregma sutures | phenotype | HPO |
C4072844 | Missing sinuses | phenotype | HPO |
C4072879 | Small cheekbone | phenotype | HPO |
C4073291 | Hyperplasia of foramen magnum | phenotype | HPO |
C4082243 | Maxillary retrognathia | phenotype | HPO |
C4280262 | Dystrophic tooth enamel | phenotype | HPO |
C4280320 | Hypotrophic midface | phenotype | HPO |
C4280321 | Decreased projection of midface | phenotype | HPO |
C4280368 | Hypotrophic cheekbone | phenotype | HPO |
C4280369 | Flattening of the zygomatic bone | phenotype | HPO |
C4280370 | Depressed cheekbone | phenotype | HPO |
C4280411 | Delayed maturation fo pubic bone | phenotype | HPO |
C4280456 | Dysplasia of tooth enamel | phenotype | HPO |
C4280457 | Defective enamel matrix | phenotype | HPO |
C4280495 | Concave bridge of nose | phenotype | HPO |
C4280533 | Decreased calcification of skull | phenotype | HPO |
C4280548 | Hypotrophic frontal sinus | phenotype | HPO |
C4280549 | Decreased pneumatization of frontal sinus | phenotype | HPO |
C4280554 | Increased diameter of foramen magnum | phenotype | HPO |
C4280555 | Increased circumference of foramen magnum | phenotype | HPO |
C4280559 | Aplasia of frontal sinus | phenotype | HPO |
C4280560 | Increased thickness of cranium | phenotype | HPO |
C4280567 | Abnormal skeletal development | phenotype | HPO |
C4280615 | Defective tooth enamel | phenotype | HPO |
C4280623 | Rotting teeth | phenotype | HPO |
C4280640 | Retrusion of upper jaw bones | phenotype | HPO |
C4280641 | Hypotrophic maxilla | phenotype | HPO |
C4280642 | Deficiency of upper jaw bones | phenotype | HPO |
C4280643 | Decreased projection of maxilla | phenotype | HPO |
C4280644 | Increased size of the mandible | phenotype | HPO |
C4280645 | Hypertrophy of lower jaw | phenotype | HPO |
C4280651 | Hypotrophic malar bone | phenotype | HPO |
C4281993 | Neonatal respiratory distress | phenotype | HPO |
C4282132 | Malignancy | phenotype | BEFREE |
C4317152 | Dimple chin | phenotype | HPO |
C4476523 | Decreased projection of lower jaw | phenotype | HPO |
C4476524 | Decreased projection of mandible | phenotype | HPO |
C4476525 | Retrusion of lower jaw | phenotype | HPO |
C4520898 | Stage IV Breast Cancer AJCC v6 and v7 | disease | BEFREE |
GO ID | GO Term | Evidence |
---|---|---|
GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IEA |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA |
GO:0003682 | chromatin binding | IEA |
GO:0003700 | DNA-binding transcription factor activity | NAS |
GO:0005515 | protein binding | IPI |
GO:0005524 | ATP binding | IEA |
GO:0019904 | protein domain specific binding | IEA |
GO:0043425 | bHLH transcription factor binding | IEA |
GO:0070491 | repressing transcription factor binding | IEA |
GO ID | GO Term | Evidence |
---|---|---|
GO:0001503 | ossification | TAS |
GO:0001503 | ossification | IBA |
GO:0001649 | osteoblast differentiation | TAS |
GO:0001649 | osteoblast differentiation | IEP |
GO:0001958 | endochondral ossification | IEA |
GO:0002051 | osteoblast fate commitment | IEA |
GO:0002062 | chondrocyte differentiation | IBA |
GO:0002063 | chondrocyte development | IEA |
GO:0002076 | osteoblast development | IEA |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS |
GO:0008284 | positive regulation of cell population proliferation | IEA |
GO:0030097 | hemopoiesis | IBA |
GO:0030182 | neuron differentiation | IBA |
GO:0030217 | T cell differentiation | IEA |
GO:0030509 | BMP signaling pathway | ISS |
GO:0032332 | positive regulation of chondrocyte differentiation | IEA |
GO:0035115 | embryonic forelimb morphogenesis | IEA |
GO:0040036 | regulation of fibroblast growth factor receptor signaling pathway | IEA |
GO:0042475 | odontogenesis of dentin-containing tooth | IEA |
GO:0042487 | regulation of odontogenesis of dentin-containing tooth | IEA |
GO:0045595 | regulation of cell differentiation | IBA |
GO:0045669 | positive regulation of osteoblast differentiation | IMP |
GO:0045879 | negative regulation of smoothened signaling pathway | IEA |
GO:0045892 | negative regulation of transcription, DNA-templated | IDA |
GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IMP |
GO:0048469 | cell maturation | IEA |
GO:0048701 | embryonic cranial skeleton morphogenesis | IEA |
GO:0048863 | stem cell differentiation | IEA |
GO:0071773 | cellular response to BMP stimulus | ISS |
GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | ISS |
GO ID | GO Term | Evidence |
---|---|---|
GO:0000790 | nuclear chromatin | ISS |
GO:0000790 | nuclear chromatin | ISA |
GO:0005634 | nucleus | IBA |
GO:0005634 | nucleus | IDA |
GO:0005654 | nucleoplasm | IDA |
GO:0005654 | nucleoplasm | TAS |
GO:0005667 | transcription factor complex | IEA |
GO:0005829 | cytosol | TAS |
Reactome ID | Reactome Term | Evidence |
---|---|---|
R-HSA-2032785 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | IEA |
R-HSA-212436 | Generic Transcription Pathway | IEA |
R-HSA-212436 | Generic Transcription Pathway | TAS |
R-HSA-73857 | RNA Polymerase II Transcription | IEA |
R-HSA-73857 | RNA Polymerase II Transcription | TAS |
R-HSA-74160 | Gene expression (Transcription) | IEA |
R-HSA-74160 | Gene expression (Transcription) | TAS |
R-HSA-8878166 | Transcriptional regulation by RUNX2 | IEA |
R-HSA-8878166 | Transcriptional regulation by RUNX2 | TAS |
R-HSA-8878171 | Transcriptional regulation by RUNX1 | TAS |
R-HSA-8939246 | RUNX1 regulates transcription of genes involved in differentiation of myeloid cells | TAS |
R-HSA-8939902 | Regulation of RUNX2 expression and activity | IEA |
R-HSA-8939902 | Regulation of RUNX2 expression and activity | TAS |
R-HSA-8940973 | RUNX2 regulates osteoblast differentiation | IEA |
R-HSA-8940973 | RUNX2 regulates osteoblast differentiation | TAS |
R-HSA-8941284 | RUNX2 regulates chondrocyte maturation | IEA |
R-HSA-8941326 | RUNX2 regulates bone development | IEA |
R-HSA-8941326 | RUNX2 regulates bone development | TAS |
R-HSA-8941332 | RUNX2 regulates genes involved in cell migration | TAS |
R-HSA-8941332 | RUNX2 regulates genes involved in cell migration | IEA |
R-HSA-8941333 | RUNX2 regulates genes involved in differentiation of myeloid cells | TAS |
ID | Drug Name | Action | PubMed |
---|---|---|---|
C097240 | 15-deoxy-delta(12,14)-prostaglandin J2 | 15-deoxy-delta(12,14)-prostaglandin J2 results in decreased expression of RUNX2 mRNA | 12021203 |
C119129 | 18alpha-glycyrrhetinic acid | 18alpha-glycyrrhetinic acid inhibits the reaction [BMP2 protein results in increased activity of RUNX2 protein] | 21910061 |
C119129 | 18alpha-glycyrrhetinic acid | 18alpha-glycyrrhetinic acid inhibits the reaction [RUNX2 protein results in increased expression of ALPL mRNA] | 21910061 |
C119129 | 18alpha-glycyrrhetinic acid | 18alpha-glycyrrhetinic acid inhibits the reaction [RUNX2 protein results in increased expression of BGLAP mRNA] | 21910061 |
D015632 | 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine | 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in decreased expression of RUNX2 mRNA | 30529163 |
C532162 | 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | [PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in increased expression of RUNX2 mRNA | 20453058 |
C029790 | 2,2',3',4,4',5-hexachlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of RUNX2 mRNA | 25510870 |
C029790 | 2,2',3',4,4',5-hexachlorobiphenyl | 2,2',3',4,4',5-hexachlorobiphenyl results in increased expression of RUNX2 mRNA | 23829299 |
C093973 | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Resveratrol results in increased expression of RUNX2 mRNA] | 17689939 |
C093973 | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one results in decreased expression of RUNX2 mRNA | 17689939 |
C093973 | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Arsenic Trioxide results in decreased expression of RUNX2] | 24531206 |
C093973 | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Quercetin results in increased expression of RUNX2 mRNA] | 26053266; 26136938; |
C093973 | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | [pyrazolanthrone co-treated with SB 203580 co-treated with 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one] inhibits the reaction [Quercetin results in increased expression of RUNX2 mRNA] | 26136938 |
C019273 | 2,2-bis(4-glycidyloxyphenyl)propane | 2,2-bis(4-glycidyloxyphenyl)propane promotes the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA] | 30481989 |
C081766 | 2,4,4'-trichlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of RUNX2 mRNA | 25510870 |
C014024 | 2,4,5,2',4',5'-hexachlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of RUNX2 mRNA | 25510870 |
C009828 | 2,4,5,2',5'-pentachlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of RUNX2 mRNA | 25510870 |
C009407 | 2,5,2',5'-tetrachlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of RUNX2 mRNA | 25510870 |
C511621 | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of RUNX2 mRNA] | 23625689 |
C511621 | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide results in decreased expression of RUNX2 mRNA | 23625689 |
C090942 | 4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole | 4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole inhibits the reaction [Quercetin results in increased expression of RUNX2 mRNA] | 26053266 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [Glucosamine analog results in increased phosphorylation of RUNX2 protein] | 20458730 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
C550547 | 6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide | 6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide results in decreased expression of RUNX2 mRNA | 29653943 |
C550547 | 6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide | DDIT3 protein affects the reaction [6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide results in decreased expression of RUNX2 mRNA] | 29653943 |
D015123 | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of RUNX2 mRNA | 20382639 |
D015123 | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RUNX2 mRNA | 19150397 |
C496492 | abrine | abrine results in increased expression of RUNX2 mRNA | 31054353 |
D000082 | Acetaminophen | Acetaminophen results in increased expression of RUNX2 mRNA | 29067470 |
C056165 | acetovanillone | acetovanillone inhibits the reaction [Palmitic Acid results in increased expression of RUNX2 mRNA] | 24080574 |
D000111 | Acetylcysteine | Acetylcysteine inhibits the reaction [Cadmium Chloride results in decreased expression of RUNX2 mRNA] | 19017541 |
D000111 | Acetylcysteine | Acetylcysteine inhibits the reaction [Dexamethasone affects the expression of RUNX2 mRNA] | 24239970 |
D016604 | Aflatoxin B1 | Aflatoxin B1 results in decreased methylation of RUNX2 gene | 27153756 |
D016604 | Aflatoxin B1 | Aflatoxin B1 results in increased methylation of RUNX2 intron | 30157460 |
D019386 | Alendronate | Alendronate promotes the reaction [Modafinil results in increased expression of RUNX2 mRNA] | 29649498 |
D000517 | alpha-Chlorohydrin | alpha-Chlorohydrin results in decreased expression of RUNX2 mRNA | 28522335 |
D000077410 | Aluminum Chloride | [Sodium Fluoride co-treated with Aluminum Chloride] results in increased expression of RUNX2 mRNA | 21560300 |
D000077410 | Aluminum Chloride | Aluminum Chloride results in decreased expression of RUNX2 mRNA | 27470910 |
D000077410 | Aluminum Chloride | ginsenoside Rb1 inhibits the reaction [Aluminum Chloride results in decreased expression of RUNX2 mRNA] | 27470910 |
D000643 | Ammonium Chloride | Ammonium Chloride affects the expression of RUNX2 mRNA | 16483693 |
C088115 | anacardic acid | anacardic acid inhibits the reaction [Tretinoin results in increased expression of RUNX2 mRNA] | 24819975 |
D001151 | Arsenic | Arsenic affects the methylation of RUNX2 gene | 25304211 |
D000077237 | Arsenic Trioxide | Arsenic Trioxide results in decreased expression of RUNX2 mRNA | 20458559 |
D000077237 | Arsenic Trioxide | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Arsenic Trioxide results in decreased expression of RUNX2] | 24531206 |
D000077237 | Arsenic Trioxide | Arsenic Trioxide results in decreased expression of RUNX2 | 24531206 |
D000077237 | Arsenic Trioxide | Arsenic Trioxide results in decreased expression of RUNX2 mRNA | 22465848 |
C015001 | arsenite | arsenite results in increased methylation of RUNX2 promoter | 23974009 |
D017638 | Asbestos, Crocidolite | Asbestos, Crocidolite results in increased expression of RUNX2 mRNA | 18687144 |
D001205 | Ascorbic Acid | [Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA | 26424790 |
D001205 | Ascorbic Acid | Ascorbic Acid results in increased expression of RUNX2 mRNA | 28105418 |
D001205 | Ascorbic Acid | [Cholecalciferol co-treated with beta-glycerophosphoric acid co-treated with Ascorbic Acid] results in increased expression of RUNX2 mRNA | 17692823 |
D001205 | Ascorbic Acid | EZH2 protein inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA] | 26424790 |
D001205 | Ascorbic Acid | [Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 mRNA | 26492236 |
D001205 | Ascorbic Acid | Ascorbic Acid results in increased expression of RUNX2 mRNA | 20530736 |
D001205 | Ascorbic Acid | N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride inhibits the reaction [[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 mRNA] | 26492236 |
D001205 | Ascorbic Acid | U 0126 inhibits the reaction [Ascorbic Acid results in increased expression of RUNX2 mRNA] | 20530736 |
D001205 | Ascorbic Acid | [Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein | 27387537 |
D001205 | Ascorbic Acid | [Ascorbic Acid co-treated with Phosphates] results in increased expression of RUNX2 mRNA | 21613385 |
D001205 | Ascorbic Acid | [beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA | 27028516 |
D001205 | Ascorbic Acid | Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein] | 27387537 |
D001205 | Ascorbic Acid | ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein]] | 27387537 |
D001205 | Ascorbic Acid | Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA] | 27028516 |
D001205 | Ascorbic Acid | NOG protein inhibits the reaction [ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein]]] | 27387537 |
D001205 | Ascorbic Acid | Quercetin affects the reaction [Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA]] | 27028516 |
D001205 | Ascorbic Acid | 2,2-bis(4-glycidyloxyphenyl)propane promotes the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA] | 30481989 |
D001205 | Ascorbic Acid | [beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA | 30481989 |
D001205 | Ascorbic Acid | [Ascorbic Acid co-treated with IL11 protein] results in increased expression of RUNX2 mRNA | 17956465 |
D001205 | Ascorbic Acid | Ascorbic Acid results in increased expression of RUNX2 mRNA | 17274723 |
C547126 | AZM551248 | AZM551248 results in increased expression of RUNX2 mRNA | 22323515 |
D001554 | Benzene | Benzene results in increased expression of RUNX2 mRNA | 22960397 |
D001554 | Benzene | Benzene results in decreased expression of RUNX2 mRNA | 15120971 |
D001599 | Berberine | Berberine results in increased expression of RUNX2 mRNA | 26478571 |
D001599 | Berberine | CTNNB1 mutant form inhibits the reaction [Berberine results in increased expression of RUNX2 mRNA] | 26478571 |
D001599 | Berberine | DKK1 protein inhibits the reaction [Berberine results in increased expression of RUNX2 mRNA] | 26478571 |
C031463 | beta-glycerophosphoric acid | [Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA | 26424790 |
C031463 | beta-glycerophosphoric acid | [Cholecalciferol co-treated with beta-glycerophosphoric acid co-treated with Ascorbic Acid] results in increased expression of RUNX2 mRNA | 17692823 |
C031463 | beta-glycerophosphoric acid | EZH2 protein inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA] | 26424790 |
C031463 | beta-glycerophosphoric acid | [Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 mRNA | 26492236 |
C031463 | beta-glycerophosphoric acid | N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride inhibits the reaction [[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 mRNA] | 26492236 |
C031463 | beta-glycerophosphoric acid | [Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein | 27387537 |
C031463 | beta-glycerophosphoric acid | [beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA | 27028516 |
C031463 | beta-glycerophosphoric acid | Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein] | 27387537 |
C031463 | beta-glycerophosphoric acid | ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein]] | 27387537 |
C031463 | beta-glycerophosphoric acid | Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA] | 27028516 |
C031463 | beta-glycerophosphoric acid | NOG protein inhibits the reaction [ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein]]] | 27387537 |
C031463 | beta-glycerophosphoric acid | Quercetin affects the reaction [Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA]] | 27028516 |
C031463 | beta-glycerophosphoric acid | 2,2-bis(4-glycidyloxyphenyl)propane promotes the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA] | 30481989 |
C031463 | beta-glycerophosphoric acid | [beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA | 30481989 |
D001629 | Bezafibrate | Bezafibrate results in increased expression of RUNX2 mRNA | 21499286 |
D001629 | Bezafibrate | dorsomorphin inhibits the reaction [Bezafibrate results in increased expression of RUNX2 mRNA] | 21499286 |
D001629 | Bezafibrate | GSK0660 inhibits the reaction [Bezafibrate results in increased expression of RUNX2 mRNA] | 21499286 |
C543008 | bis(4-hydroxyphenyl)sulfone | bis(4-hydroxyphenyl)sulfone results in increased expression of RUNX2 mRNA | 30951980 |
C070515 | bisindolylmaleimide I | bisindolylmaleimide I inhibits the reaction [FGF2 protein results in increased expression of RUNX2 mRNA] | 12403780 |
C006780 | bisphenol A | bisphenol A results in decreased expression of RUNX2 mRNA | 30075455 |
C006780 | bisphenol A | bisphenol A affects the methylation of RUNX2 promoter | 27334623 |
C006780 | bisphenol A | bisphenol A results in decreased expression of RUNX2 mRNA | 23900028 |
C006780 | bisphenol A | bisphenol A results in increased expression of RUNX2 mRNA | 30951980 |
C006780 | bisphenol A | bisphenol A results in decreased expression of RUNX2 mRNA | 25181051 |
C006780 | bisphenol A | bisphenol A results in increased expression of RUNX2 mRNA | 30816183 |
C006780 | bisphenol A | bisphenol A results in increased methylation of RUNX2 gene | 28505145 |
C000611646 | bisphenol F | bisphenol F results in increased expression of RUNX2 mRNA | 30951980 |
C032688 | boric acid | boric acid affects the expression of RUNX2 mRNA | 24704097 |
D000069286 | Bortezomib | Bortezomib results in increased expression of RUNX2 protein | 19894220 |
C038091 | butylparaben | butylparaben results in decreased expression of RUNX2 mRNA | 28527915 |
D002104 | Cadmium | Cadmium results in decreased expression of RUNX2 mRNA | 20570719 |
D019256 | Cadmium Chloride | Acetylcysteine inhibits the reaction [Cadmium Chloride results in decreased expression of RUNX2 mRNA] | 19017541 |
D019256 | Cadmium Chloride | Cadmium Chloride results in decreased expression of RUNX2 | 22019892 |
D019256 | Cadmium Chloride | Cadmium Chloride results in decreased expression of RUNX2 mRNA | 19017541; 25596134; |
C055494 | caffeic acid phenethyl ester | caffeic acid phenethyl ester inhibits the reaction [Dexamethasone results in decreased expression of RUNX2 protein] | 28363435 |
D002110 | Caffeine | Caffeine results in decreased expression of RUNX2 mRNA | 30423288 |
D002112 | Calcifediol | Calcifediol results in increased expression of RUNX2 mRNA | 21542014 |
D002112 | Calcifediol | CYP27B1 protein promotes the reaction [Calcifediol results in increased expression of RUNX2 mRNA] | 21542014 |
D002112 | Calcifediol | Ketoconazole inhibits the reaction [Calcifediol results in increased expression of RUNX2 mRNA] | 21542014 |
D002117 | Calcitriol | Calcitriol promotes the reaction [VDR protein binds to RUNX2 enhancer] | 17293108 |
D002117 | Calcitriol | Calcitriol results in decreased expression of RUNX2 mRNA | 16002434; 26485663; |
D002117 | Calcitriol | Calcitriol results in increased expression of RUNX2 mRNA | 21542014; 28105418; |
D002117 | Calcitriol | Calcitriol results in decreased expression of RUNX2 mRNA | 17293108 |
D002117 | Calcitriol | Calcitriol results in increased expression of RUNX2 protein | 19092814 |
C058819 | calphostin C | calphostin C inhibits the reaction [FGF2 protein results in increased expression of and results in increased activity of RUNX2 protein] | 12403780 |
C058819 | calphostin C | calphostin C inhibits the reaction [FGF2 protein results in increased expression of RUNX2 mRNA] | 12403780 |
D002164 | Camphor | Camphor analog affects the expression of RUNX2 mRNA | 24704097 |
D002251 | Carbon Tetrachloride | Carbon Tetrachloride affects the expression of RUNX2 mRNA | 17484886 |
D002251 | Carbon Tetrachloride | Carbon Tetrachloride results in increased expression of RUNX2 mRNA | 17334410 |
D002251 | Carbon Tetrachloride | FR 167653 inhibits the reaction [Carbon Tetrachloride results in increased expression of RUNX2 mRNA] | 17334410 |
D000068579 | Celecoxib | [Celecoxib results in decreased activity of PTGS2 protein] which results in decreased expression of RUNX2 mRNA | 27050768 |
D000068579 | Celecoxib | [Celecoxib results in decreased activity of PTGS2 protein] which results in decreased expression of RUNX2 protein | 27050768 |
D048271 | Chitosan | Chitosan results in increased expression of RUNX2 mRNA | 25246786 |
D048271 | Chitosan | Chitosan results in increased expression of RUNX2 protein | 25246786 |
C004656 | chloroacetaldehyde | chloroacetaldehyde results in decreased expression of RUNX2 mRNA | 25596134 |
D004390 | Chlorpyrifos | [Chlorpyrifos co-treated with Ethylenethiourea] results in decreased expression of RUNX2 mRNA | 27905518 |
D004390 | Chlorpyrifos | Chlorpyrifos results in decreased expression of RUNX2 mRNA | 27905518 |
D002762 | Cholecalciferol | [Cholecalciferol co-treated with beta-glycerophosphoric acid co-treated with Ascorbic Acid] results in increased expression of RUNX2 mRNA | 17692823 |
D002794 | Choline | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of RUNX2 mRNA | 20938992 |
C022990 | chromic chloride | [cobaltous chloride co-treated with chromic chloride] affects the expression of RUNX2 mRNA | 25966675 |
D002858 | Chromium Alloys | Chromium Alloys results in decreased expression of RUNX2 mRNA | 25966675 |
D000077404 | Cidofovir | Cidofovir results in increased expression of RUNX2 mRNA | 25596134 |
D002945 | Cisplatin | Cisplatin affects the expression of RUNX2 mRNA | 25596134 |
D002945 | Cisplatin | Cisplatin promotes the reaction [jinfukang results in decreased expression of RUNX2 mRNA] | 27392435 |
D002945 | Cisplatin | Cisplatin results in decreased expression of RUNX2 mRNA | 27392435 |
D002945 | Cisplatin | jinfukang promotes the reaction [Cisplatin results in decreased expression of RUNX2 mRNA] | 27392435 |
D004002 | Clodronic Acid | Clodronic Acid results in increased expression of RUNX2 mRNA | 25596134 |
C007095 | cobaltiprotoporphyrin | [cobaltiprotoporphyrin co-treated with IL1B protein] results in increased expression of RUNX2 mRNA | 22155307 |
C018021 | cobaltous chloride | cobaltous chloride affects the expression of RUNX2 mRNA | 25966675 |
C018021 | cobaltous chloride | [cobaltous chloride co-treated with chromic chloride] affects the expression of RUNX2 mRNA | 25966675 |
C018021 | cobaltous chloride | cobaltous chloride results in decreased expression of RUNX2 mRNA | 16772336 |
D003042 | Cocaine | [Cocaine co-treated with Cocaine deficiency] promotes the reaction [RUNX2 protein binds to DNM1L promoter] | 30158054 |
D003042 | Cocaine | [Cocaine co-treated with Cocaine deficiency] promotes the reaction [RUNX2 protein binds to EGR3 promoter] | 30158054 |
D003042 | Cocaine | [Cocaine co-treated with Cocaine deficiency] promotes the reaction [RUNX2 protein binds to SMARCA4 promoter] | 30158054 |
D003042 | Cocaine | [Cocaine co-treated with Cocaine deficiency] results in increased expression of and results in increased activity of RUNX2 protein | 30158054 |
D005576 | Colforsin | Colforsin results in increased expression of RUNX2 mRNA | 20197312 |
D003300 | Copper | [Copper co-treated with Dietary Sucrose] results in increased expression of RUNX2 mRNA | 26033743 |
D003300 | Copper | Copper deficiency results in increased expression of RUNX2 mRNA | 26033743 |
D003345 | Corticosterone | Corticosterone results in decreased expression of RUNX2 mRNA | 30423288 |
D003345 | Corticosterone | Enalapril inhibits the reaction [Corticosterone results in decreased expression of RUNX2 mRNA] | 30423288 |
D065366 | Cryptoxanthins | [Cryptoxanthins co-treated with Vitamin A] results in increased expression of RUNX2 mRNA | 15962303 |
D065366 | Cryptoxanthins | Cryptoxanthins results in increased expression of RUNX2 mRNA | 15962303 |
D065366 | Cryptoxanthins | Cycloheximide inhibits the reaction [Cryptoxanthins results in increased expression of RUNX2 mRNA] | 15962303 |
D065366 | Cryptoxanthins | Dichlororibofuranosylbenzimidazole inhibits the reaction [Cryptoxanthins results in increased expression of RUNX2 mRNA] | 15962303 |
D003474 | Curcumin | Curcumin results in decreased expression of RUNX2 protein | 15129424 |
D003513 | Cycloheximide | Cycloheximide inhibits the reaction [Cryptoxanthins results in increased expression of RUNX2 mRNA] | 15962303 |
D003513 | Cycloheximide | Cycloheximide inhibits the reaction [Zinc Sulfate results in increased expression of RUNX2 mRNA] | 18327666 |
D003634 | DDT | DDT results in increased expression of RUNX2 mRNA | 25014179 |
D003676 | Deferoxamine | Deferoxamine results in decreased expression of RUNX2 mRNA | 16772336 |
D003907 | Dexamethasone | Dexamethasone results in increased expression of RUNX2 mRNA | 25286332; 26468166; |
D003907 | Dexamethasone | [Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA | 26424790 |
D003907 | Dexamethasone | Dexamethasone results in decreased expression of RUNX2 mRNA | 25047013 |
D003907 | Dexamethasone | EZH2 protein inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA] | 26424790 |
D003907 | Dexamethasone | [Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 mRNA | 26492236 |
D003907 | Dexamethasone | Dexamethasone results in decreased expression of RUNX2 protein | 30878453 |
D003907 | Dexamethasone | naringin inhibits the reaction [Dexamethasone results in decreased expression of RUNX2 protein] | 30878453 |
D003907 | Dexamethasone | N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride inhibits the reaction [[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 mRNA] | 26492236 |
D003907 | Dexamethasone | Acetylcysteine inhibits the reaction [Dexamethasone affects the expression of RUNX2 mRNA] | 24239970 |
D003907 | Dexamethasone | [beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA | 27028516 |
D003907 | Dexamethasone | caffeic acid phenethyl ester inhibits the reaction [Dexamethasone results in decreased expression of RUNX2 protein] | 28363435 |
D003907 | Dexamethasone | Dexamethasone affects the expression of RUNX2 mRNA | 24239970 |
D003907 | Dexamethasone | Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein] | 27387537 |
D003907 | Dexamethasone | Dexamethasone results in decreased expression of RUNX2 mRNA | 27387537 |
D003907 | Dexamethasone | Dexamethasone results in decreased expression of RUNX2 protein | 27387537; 28363435; |
D003907 | Dexamethasone | ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein]] | 27387537 |
D003907 | Dexamethasone | ginsenoside Rg3 inhibits the reaction [Dexamethasone results in decreased expression of RUNX2 mRNA] | 27387537 |
D003907 | Dexamethasone | ginsenoside Rg3 inhibits the reaction [Dexamethasone results in decreased expression of RUNX2 protein] | 27387537 |
D003907 | Dexamethasone | Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA] | 27028516 |
D003907 | Dexamethasone | NOG protein inhibits the reaction [ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein]]] | 27387537 |
D003907 | Dexamethasone | Quercetin affects the reaction [Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA]] | 27028516 |
D003907 | Dexamethasone | 2,2-bis(4-glycidyloxyphenyl)propane promotes the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA] | 30481989 |
D003907 | Dexamethasone | [beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of RUNX2 mRNA | 30481989 |
D004004 | Dichlororibofuranosylbenzimidazole | Dichlororibofuranosylbenzimidazole inhibits the reaction [Cryptoxanthins results in increased expression of RUNX2 mRNA] | 15962303 |
D004004 | Dichlororibofuranosylbenzimidazole | Dichlororibofuranosylbenzimidazole inhibits the reaction [Zinc Sulfate results in increased expression of RUNX2 mRNA] | 18327666 |
D004008 | Diclofenac | Diclofenac results in increased expression of RUNX2 mRNA | 30723492 |
C036042 | dicyclohexyl phthalate | dicyclohexyl phthalate affects the expression of RUNX2 mRNA | 26924002 |
D019422 | Dietary Sucrose | [Copper co-treated with Dietary Sucrose] results in increased expression of RUNX2 mRNA | 26033743 |
D019422 | Dietary Sucrose | Dietary Sucrose results in increased expression of RUNX2 mRNA | 26033743 |
D004051 | Diethylhexyl Phthalate | Diethylhexyl Phthalate results in increased expression of RUNX2 mRNA | 31163220 |
D004051 | Diethylhexyl Phthalate | Diethylhexyl Phthalate results in decreased expression of RUNX2 mRNA | 29945229 |
D004051 | Diethylhexyl Phthalate | Diethylhexyl Phthalate results in decreased expression of RUNX2 protein | 22985736 |
D004052 | Diethylnitrosamine | Diethylnitrosamine results in increased expression of RUNX2 mRNA | 24535843 |
D004052 | Diethylnitrosamine | [indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of RUNX2 mRNA | 22129741 |
D004075 | Diglycerides | Diglycerides results in increased expression of RUNX2 mRNA | 22286232 |
C024629 | dimethyl phthalate | dimethyl phthalate affects the expression of RUNX2 mRNA | 26924002 |
D015237 | Dinoprost | Dinoprost results in increased expression of RUNX2 mRNA | 27050768 |
D015237 | Dinoprost | Dinoprost results in increased expression of RUNX2 protein | 27050768 |
D015232 | Dinoprostone | Dinoprostone results in increased expression of RUNX2 mRNA | 27050768 |
D015232 | Dinoprostone | Dinoprostone results in increased expression of RUNX2 protein | 27050768 |
D004221 | Disulfiram | Disulfiram results in increased expression of RUNX2 mRNA | 24496638 |
C516138 | dorsomorphin | [NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
C516138 | dorsomorphin | [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
C516138 | dorsomorphin | [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
C516138 | dorsomorphin | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
C516138 | dorsomorphin | dorsomorphin inhibits the reaction [Bezafibrate results in increased expression of RUNX2 mRNA] | 21499286 |
D004365 | Drugs, Chinese Herbal | Drugs, Chinese Herbal results in increased expression of RUNX2 mRNA | 16543677 |
D015118 | Eicosapentaenoic Acid | Eicosapentaenoic Acid results in decreased expression of RUNX2 mRNA | 21193197 |
D004656 | Enalapril | Enalapril inhibits the reaction [Corticosterone results in decreased expression of RUNX2 mRNA] | 30423288 |
C045651 | epigallocatechin gallate | [potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of RUNX2 mRNA | 22079256 |
D004958 | Estradiol | EGF protein promotes the reaction [Estradiol results in increased expression of RUNX2 mRNA] | 24758408 |
D004958 | Estradiol | [Estradiol co-treated with Progesterone] results in decreased expression of RUNX2 mRNA | 20660070 |
D004958 | Estradiol | [Estradiol co-treated with TGFB1 protein] results in increased expression of RUNX2 mRNA | 30165855 |
D004958 | Estradiol | Estradiol results in increased expression of RUNX2 mRNA | 16202921; 17689939; 24758408; |
D004958 | Estradiol | Fulvestrant inhibits the reaction [Estradiol results in increased expression of RUNX2 mRNA] | 17689939 |
D004958 | Estradiol | Estradiol affects the expression of RUNX2 mRNA | 17166402 |
D004967 | Estrogens | Estrogens results in increased expression of RUNX2 mRNA | 25014179 |
D004967 | Estrogens | Estrogens affects the expression of RUNX2 mRNA | 24098073 |
D000431 | Ethanol | [Genistein co-treated with Ethanol] results in increased expression of RUNX2 mRNA | 24872432 |
D000431 | Ethanol | [Genistein co-treated with Ethanol] results in increased expression of RUNX2 protein | 24872432 |
D004997 | Ethinyl Estradiol | Ethinyl Estradiol results in decreased expression of RUNX2 mRNA | 23129252 |
C034096 | ethoxyacetic acid | ethoxyacetic acid affects the expression of RUNX2 mRNA | 24704097 |
D005031 | Ethylenethiourea | [Chlorpyrifos co-treated with Ethylenethiourea] results in decreased expression of RUNX2 mRNA | 27905518 |
C004808 | farnesyl pyrophosphate | farnesyl pyrophosphate inhibits the reaction [Simvastatin inhibits the reaction [TNF protein inhibits the reaction [BMP2 results in increased expression of RUNX2 mRNA]]] | 18310456 |
D005419 | Flavonoids | Flavonoids results in increased expression of RUNX2 mRNA | 16543677; 23238999; |
D005459 | Fluorides | Fluorides results in increased expression of RUNX2 mRNA | 20709135 |
D005459 | Fluorides | Fluorides inhibits the reaction [potassium phosphate results in increased expression of RUNX2 mRNA] | 24561004 |
D005472 | Fluorouracil | Fluorouracil affects the expression of RUNX2 mRNA | 24704097 |
D005492 | Folic Acid | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of RUNX2 mRNA | 20938992 |
C104334 | FR 167653 | FR 167653 inhibits the reaction [Carbon Tetrachloride results in increased expression of RUNX2 mRNA] | 17334410 |
C069837 | fullerene C60 | fullerene C60 results in increased expression of RUNX2 mRNA | 19167457 |
D000077267 | Fulvestrant | Fulvestrant inhibits the reaction [Estradiol results in increased expression of RUNX2 mRNA] | 17689939 |
D000077267 | Fulvestrant | Fulvestrant inhibits the reaction [notoginsenoside R1 results in increased expression of RUNX2 mRNA] | 26362186 |
D000077267 | Fulvestrant | Fulvestrant inhibits the reaction [Resveratrol results in increased expression of RUNX2 mRNA] | 17689939 |
D000077267 | Fulvestrant | Fulvestrant inhibits the reaction [naringin results in increased expression of RUNX2 mRNA] | 23596885 |
C057580 | gallocatechol | gallocatechol results in increased expression of RUNX2 mRNA | 21877759 |
D005680 | gamma-Aminobutyric Acid | gamma-Aminobutyric Acid affects the expression of RUNX2 mRNA | 24098073 |
C013172 | gamma-oryzanol | gamma-oryzanol affects the expression of RUNX2 mRNA | 24098073 |
D019833 | Genistein | Genistein affects the expression of RUNX2 mRNA | 17166402 |
D019833 | Genistein | [Genistein co-treated with Ethanol] results in increased expression of RUNX2 mRNA | 24872432 |
D019833 | Genistein | [Genistein co-treated with Ethanol] results in increased expression of RUNX2 protein | 24872432 |
D019833 | Genistein | Genistein results in increased expression of RUNX2 mRNA | 24872432 |
D019833 | Genistein | Genistein results in increased expression of RUNX2 protein | 24872432 |
D019833 | Genistein | Genistein results in increased expression of RUNX2 mRNA | 21877759 |
C002963 | geranylgeranyl pyrophosphate | geranylgeranyl pyrophosphate inhibits the reaction [Simvastatin inhibits the reaction [TNF protein inhibits the reaction [BMP2 results in increased expression of RUNX2 mRNA]]] | 18310456 |
C112485 | ginkgolic acid | ginkgolic acid inhibits the reaction [Tretinoin results in increased expression of RUNX2 mRNA] | 24819975 |
C442759 | ginsenoside Rb1 | ginsenoside Rb1 inhibits the reaction [Aluminum Chloride results in decreased expression of RUNX2 mRNA] | 27470910 |
C442759 | ginsenoside Rb1 | ginsenoside Rb1 results in increased expression of RUNX2 mRNA | 27470910 |
C097367 | ginsenoside Rg3 | ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein]] | 27387537 |
C097367 | ginsenoside Rg3 | ginsenoside Rg3 inhibits the reaction [Dexamethasone results in decreased expression of RUNX2 mRNA] | 27387537 |
C097367 | ginsenoside Rg3 | ginsenoside Rg3 inhibits the reaction [Dexamethasone results in decreased expression of RUNX2 protein] | 27387537 |
C097367 | ginsenoside Rg3 | NOG protein inhibits the reaction [ginsenoside Rg3 inhibits the reaction [Dexamethasone inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 protein]]] | 27387537 |
D005944 | Glucosamine | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [Glucosamine analog results in increased phosphorylation of RUNX2 protein] | 20458730 |
D005944 | Glucosamine | Glucosamine analog results in increased expression of RUNX2 mRNA | 20458730 |
D005944 | Glucosamine | Glucosamine analog results in increased phosphorylation of RUNX2 protein | 20458730 |
D005947 | Glucose | [EPO protein co-treated with Glucose] results in increased expression of RUNX2 mRNA | 30894315 |
D005947 | Glucose | [EPO protein co-treated with Glucose] results in increased expression of RUNX2 protein | 30894315 |
D005947 | Glucose | Glucose results in increased expression of RUNX2 mRNA | 17178593 |
D005960 | Glucosides | Glucosides analog affects the expression of RUNX2 mRNA | 24098073 |
C004312 | glycidol | glycidol results in increased expression of RUNX2 mRNA | 24915197 |
C529769 | GSK0660 | GSK0660 inhibits the reaction [Bezafibrate results in increased expression of RUNX2 mRNA] | 21499286 |
C577920 | GSK126 | GSK126 results in increased expression of RUNX2 mRNA | 26424790 |
C047845 | heraclenin | heraclenin results in increased expression of RUNX2 mRNA | 31319076 |
C409722 | hexaconazole | hexaconazole affects the expression of RUNX2 mRNA | 24704097 |
D006851 | Hydrochloric Acid | Hydrochloric Acid results in increased expression of RUNX2 mRNA | 17183249 |
D006851 | Hydrochloric Acid | Hydrochloric Acid results in increased expression of RUNX2 protein | 17183249 |
D006861 | Hydrogen Peroxide | DKK1 protein inhibits the reaction [naringin inhibits the reaction [Hydrogen Peroxide results in decreased expression of RUNX2 mRNA]] | 26482937 |
D006861 | Hydrogen Peroxide | Hydrogen Peroxide results in decreased expression of RUNX2 mRNA | 26482937 |
D006861 | Hydrogen Peroxide | naringin inhibits the reaction [Hydrogen Peroxide results in decreased expression of RUNX2 mRNA] | 26482937 |
D006861 | Hydrogen Peroxide | Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA] | 27028516 |
D006861 | Hydrogen Peroxide | Quercetin affects the reaction [Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA]] | 27028516 |
C031927 | hydroquinone | hydroquinone results in increased expression of RUNX2 mRNA | 22960397 |
D006918 | Hydroxyurea | Hydroxyurea affects the expression of RUNX2 mRNA | 24704097 |
C056599 | icariin | icariin results in increased expression of RUNX2 mRNA | 18295595; 19747809; |
C056599 | icariin | NOG protein inhibits the reaction [icariin results in increased expression of RUNX2 mRNA] | 18295595; 19747809; |
C056599 | icariin | icariin results in increased expression of RUNX2 mRNA | 20019778 |
C499403 | icaritin | icaritin inhibits the reaction [[lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 mRNA] | 30731080 |
C499403 | icaritin | icaritin inhibits the reaction [[lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 protein] | 30731080 |
C499403 | icaritin | icaritin results in increased expression of RUNX2 mRNA | 30731080 |
C499403 | icaritin | icaritin results in increased expression of RUNX2 protein | 30731080 |
C016517 | indole-3-carbinol | [indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of RUNX2 mRNA | 22129741 |
D015759 | Ionomycin | [Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of RUNX2 mRNA | 25613284 |
C027681 | isonicotinamide | isonicotinamide results in increased expression of RUNX2 mRNA | 21745208 |
C016527 | isoquercitrin | isoquercitrin results in increased expression of RUNX2 mRNA | 30365939 |
C544151 | jinfukang | Cisplatin promotes the reaction [jinfukang results in decreased expression of RUNX2 mRNA] | 27392435 |
C544151 | jinfukang | jinfukang promotes the reaction [Cisplatin results in decreased expression of RUNX2 mRNA] | 27392435 |
C561695 | (+)-JQ1 compound | (+)-JQ1 compound inhibits the reaction [BRD4 protein binds to RUNX2 gene] | 25944566 |
C561695 | (+)-JQ1 compound | (+)-JQ1 compound inhibits the reaction [BRD4 protein binds to RUNX2 promoter] | 25307878 |
C561695 | (+)-JQ1 compound | (+)-JQ1 compound results in decreased expression of RUNX2 mRNA | 23129625; 24646477; 24796395; 25307878; 25944566; 26752646; 26830473; 27432991; |
C561695 | (+)-JQ1 compound | RUNX2 mutant form promotes the reaction [(+)-JQ1 compound results in increased expression of CDKN1A protein] | 25307878 |
C561695 | (+)-JQ1 compound | RUNX2 protein inhibits the reaction [(+)-JQ1 compound results in increased expression of CDKN1A protein] | 25307878 |
C561695 | (+)-JQ1 compound | RUNX2 protein results in decreased susceptibility to (+)-JQ1 compound | 25307878 |
C561695 | (+)-JQ1 compound | (+)-JQ1 compound results in decreased expression of RUNX2 mRNA | 24646477; 25944566; |
C006552 | kaempferol | kaempferol results in increased expression of RUNX2 mRNA | 23989061 |
D007654 | Ketoconazole | Ketoconazole inhibits the reaction [Calcifediol results in increased expression of RUNX2 mRNA] | 21542014 |
D007656 | Ketoglutaric Acids | Ketoglutaric Acids results in increased expression of RUNX2 mRNA | 31051157 |
D007854 | Lead | icaritin inhibits the reaction [[lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 mRNA] | 30731080 |
D007854 | Lead | icaritin inhibits the reaction [[lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 protein] | 30731080 |
D007854 | Lead | [lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 mRNA | 30731080 |
D007854 | Lead | [lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 protein | 30731080 |
D007854 | Lead | Lead results in decreased expression of RUNX2 mRNA | 23086611 |
D007854 | Lead | Lead results in decreased expression of RUNX2 protein | 23086611 |
C017461 | lead nitrate | icaritin inhibits the reaction [[lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 mRNA] | 30731080 |
C017461 | lead nitrate | icaritin inhibits the reaction [[lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 protein] | 30731080 |
C017461 | lead nitrate | [lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 mRNA | 30731080 |
C017461 | lead nitrate | [lead nitrate results in increased abundance of Lead] which results in decreased expression of RUNX2 protein | 30731080 |
C482199 | lipopolysaccharide, E coli O55-B5 | lipopolysaccharide, E coli O55-B5 inhibits the reaction [BMP2 protein results in increased expression of RUNX2 protein] | 26961602 |
C482199 | lipopolysaccharide, E coli O55-B5 | MIR23B mRNA inhibits the reaction [lipopolysaccharide, E coli O55-B5 inhibits the reaction [BMP2 protein results in increased expression of RUNX2 protein]] | 26961602 |
D019808 | Losartan | Losartan affects the reaction [[Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 mRNA] | 27412937 |
D019808 | Losartan | Losartan affects the reaction [[Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 protein] | 27412937 |
D058185 | Magnetite Nanoparticles | [Succimer binds to Magnetite Nanoparticles] which results in decreased expression of RUNX2 mRNA | 21641980 |
D058185 | Magnetite Nanoparticles | [Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of RUNX2 mRNA | 26378955 |
C025340 | manganese chloride | manganese chloride results in increased expression of RUNX2 mRNA | 28801915 |
D008550 | Melatonin | Melatonin results in increased expression of RUNX2 mRNA | 20738756 |
C042720 | mercuric bromide | [NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
D008687 | Metformin | Metformin results in increased expression of RUNX2 protein | 19594306 |
D008715 | Methionine | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of RUNX2 mRNA | 20938992 |
D008727 | Methotrexate | RUNX2 mRNA results in decreased susceptibility to Methotrexate | 20008919 |
D008731 | Methoxychlor | Methoxychlor results in decreased expression of RUNX2 mRNA | 23303685 |
D008731 | Methoxychlor | Methoxychlor results in increased methylation of RUNX2 gene | 23303685 |
C015358 | methylparaben | methylparaben results in decreased expression of RUNX2 mRNA | 28527915 |
D015735 | Mifepristone | Mifepristone results in decreased expression of RUNX2 mRNA | 20197312 |
D000077408 | Modafinil | Alendronate promotes the reaction [Modafinil results in increased expression of RUNX2 mRNA] | 29649498 |
D000077408 | Modafinil | Modafinil results in increased expression of RUNX2 mRNA | 29649498 |
C016599 | mono-(2-ethylhexyl)phthalate | mono-(2-ethylhexyl)phthalate results in decreased expression of RUNX2 mRNA | 31059758 |
C016599 | mono-(2-ethylhexyl)phthalate | mono-(2-ethylhexyl)phthalate results in decreased expression of RUNX2 mRNA | 22401849; 25777084; |
C028577 | monobutyl phthalate | monobutyl phthalate affects the expression of RUNX2 mRNA | 24704097 |
C517284 | monomethyl phthalate | monomethyl phthalate affects the expression of RUNX2 mRNA | 26924002 |
C093875 | montelukast | montelukast results in increased expression of RUNX2 mRNA | 19544365 |
C080955 | N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide | [N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide results in decreased activity of PTGS2 protein] which results in decreased expression of RUNX2 mRNA | 27050768 |
C080955 | N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide | [N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide results in decreased activity of PTGS2 protein] which results in decreased expression of RUNX2 protein | 27050768 |
C005274 | naringin | DKK1 protein inhibits the reaction [naringin inhibits the reaction [Hydrogen Peroxide results in decreased expression of RUNX2 mRNA]] | 26482937 |
C005274 | naringin | naringin inhibits the reaction [Hydrogen Peroxide results in decreased expression of RUNX2 mRNA] | 26482937 |
C005274 | naringin | naringin results in increased expression of RUNX2 mRNA | 24915843 |
C005274 | naringin | naringin inhibits the reaction [Dexamethasone results in decreased expression of RUNX2 protein] | 30878453 |
C005274 | naringin | naringin results in increased expression of RUNX2 mRNA | 21741227 |
C005274 | naringin | Fulvestrant inhibits the reaction [naringin results in increased expression of RUNX2 mRNA] | 23596885 |
C005274 | naringin | naringin results in increased expression of RUNX2 mRNA | 23596885 |
C553460 | neoeriocitrin | neoeriocitrin results in increased expression of RUNX2 mRNA | 21741227 |
D009536 | Niacinamide | Niacinamide inhibits the reaction [SIRT1 protein binds to RUNX2 protein] | 22539994 |
D009536 | Niacinamide | Niacinamide results in decreased expression of RUNX2 protein | 22539994 |
D009536 | Niacinamide | Niacinamide results in increased acetylation of RUNX2 protein | 22539994 |
D009536 | Niacinamide | Resveratrol inhibits the reaction [Niacinamide inhibits the reaction [SIRT1 protein binds to RUNX2 protein]] | 22539994 |
D009536 | Niacinamide | Resveratrol inhibits the reaction [Niacinamide results in decreased expression of RUNX2 protein] | 22539994 |
D009536 | Niacinamide | Resveratrol inhibits the reaction [Niacinamide results in increased acetylation of RUNX2 protein] | 22539994 |
D009536 | Niacinamide | Niacinamide results in decreased expression of RUNX2 mRNA | 16813520 |
D009536 | Niacinamide | Niacinamide results in increased expression of RUNX2 mRNA | 16813520 |
D009536 | Niacinamide | [Resveratrol promotes the reaction [SIRT1 protein binds to RUNX2 protein]] inhibits the reaction [Niacinamide results in increased expression of PPARG] | 22539994 |
D009536 | Niacinamide | [Resveratrol results in decreased acetylation of RUNX2 protein] inhibits the reaction [Niacinamide results in increased expression of PPARG] | 22539994 |
C028007 | nickel monoxide | nickel monoxide results in increased expression of RUNX2 mRNA | 19167457 |
D009534 | Niclosamide | Niclosamide results in decreased expression of RUNX2 mRNA | 28824321 |
C572573 | N-nitroso-tris-chloroethylurea | N-nitroso-tris-chloroethylurea results in increased mutagenesis of RUNX2 gene | 29484121 |
C044387 | N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine | [zinc chloride co-treated with N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine] results in increased expression of RUNX2 protein | 19913120 |
C044387 | N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine | [zinc chloride deficiency co-treated with N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine] results in decreased expression of RUNX2 mRNA | 19913120 |
C044387 | N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine | [zinc chloride deficiency co-treated with N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine] results in decreased expression of RUNX2 protein | 19913120 |
C072936 | notoginsenoside R1 | Fulvestrant inhibits the reaction [notoginsenoside R1 results in increased expression of RUNX2 mRNA] | 26362186 |
C072936 | notoginsenoside R1 | notoginsenoside R1 results in increased expression of RUNX2 mRNA | 26362186 |
C434926 | N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride | N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride inhibits the reaction [[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of RUNX2 mRNA] | 26492236 |
C025589 | ochratoxin A | ochratoxin A results in decreased expression of RUNX2 mRNA | 30559759 |
C510784 | ormosil | [ormosil binds to Polyethylene Glycols] which results in increased expression of RUNX2 mRNA | 24888373 |
D010100 | Oxygen | Oxygen deficiency results in decreased expression of RUNX2 mRNA | 25596134 |
D019308 | Palmitic Acid | acetovanillone inhibits the reaction [Palmitic Acid results in increased expression of RUNX2 mRNA] | 24080574 |
D019308 | Palmitic Acid | CYBA mutant form inhibits the reaction [Palmitic Acid results in increased expression of RUNX2 mRNA] | 24080574 |
D019308 | Palmitic Acid | Palmitic Acid results in increased expression of RUNX2 mRNA | 24080574 |
D019308 | Palmitic Acid | U 0126 inhibits the reaction [Palmitic Acid results in increased expression of RUNX2 mRNA] | 24080574 |
D000077767 | Panobinostat | [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
D052638 | Particulate Matter | Particulate Matter results in increased expression of RUNX2 mRNA | 29703138 |
C410127 | PCB 180 | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of RUNX2 mRNA | 25510870 |
D010662 | Phenylmercuric Acetate | [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
D010662 | Phenylmercuric Acetate | Phenylmercuric Acetate results in increased expression of RUNX2 mRNA | 26272509 |
D010710 | Phosphates | [Ascorbic Acid co-treated with Phosphates] results in increased expression of RUNX2 mRNA | 21613385 |
D010710 | Phosphates | Phosphates results in decreased expression of RUNX2 mRNA | 26111760 |
D010936 | Plant Extracts | Plant Extracts affects the expression of RUNX2 mRNA | 24098073 |
C061957 | polaprezinc | polaprezinc results in increased expression of RUNX2 mRNA | 18327666 |
D011092 | Polyethylene Glycols | [ormosil binds to Polyethylene Glycols] which results in increased expression of RUNX2 mRNA | 24888373 |
C027373 | potassium chromate(VI) | [potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of RUNX2 mRNA | 22079256 |
C027373 | potassium chromate(VI) | potassium chromate(VI) results in decreased expression of RUNX2 mRNA | 22079256 |
C013216 | potassium phosphate | Fluorides inhibits the reaction [potassium phosphate results in increased expression of RUNX2 mRNA] | 24561004 |
C013216 | potassium phosphate | potassium phosphate results in increased expression of RUNX2 mRNA | 24561004 |
D011374 | Progesterone | [Estradiol co-treated with Progesterone] results in decreased expression of RUNX2 mRNA | 20660070 |
C432165 | pyrazolanthrone | pyrazolanthrone inhibits the reaction [tanshinone results in increased expression of RUNX2 protein] | 31306638 |
C432165 | pyrazolanthrone | [pyrazolanthrone co-treated with SB 203580 co-treated with 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one] inhibits the reaction [Quercetin results in increased expression of RUNX2 mRNA] | 26136938 |
D011794 | Quercetin | Quercetin results in increased expression of RUNX2 mRNA | 16996034 |
D011794 | Quercetin | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Quercetin results in increased expression of RUNX2 mRNA] | 26053266; 26136938; |
D011794 | Quercetin | 4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole inhibits the reaction [Quercetin results in increased expression of RUNX2 mRNA] | 26053266 |
D011794 | Quercetin | [pyrazolanthrone co-treated with SB 203580 co-treated with 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one] inhibits the reaction [Quercetin results in increased expression of RUNX2 mRNA] | 26136938 |
D011794 | Quercetin | Quercetin affects the reaction [Hydrogen Peroxide affects the reaction [[beta-glycerophosphoric acid co-treated with Ascorbic Acid co-treated with Dexamethasone] affects the expression of RUNX2 mRNA]] | 27028516 |
D011794 | Quercetin | Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of RUNX2 mRNA] | 23117658 |
D011794 | Quercetin | Quercetin results in increased expression of RUNX2 mRNA | 17243115; 26053266; 26136938; |
C004532 | quinone | quinone results in increased expression of RUNX2 mRNA | 22960397 |
D020849 | Raloxifene Hydrochloride | Raloxifene Hydrochloride affects the expression of RUNX2 mRNA | 17166402 |
C073419 | Remifemin | Remifemin affects the expression of RUNX2 mRNA | 24098073 |
D000077185 | Resveratrol | Resveratrol inhibits the reaction [Niacinamide inhibits the reaction [SIRT1 protein binds to RUNX2 protein]] | 22539994 |
D000077185 | Resveratrol | Resveratrol inhibits the reaction [Niacinamide results in decreased expression of RUNX2 protein] | 22539994 |
D000077185 | Resveratrol | Resveratrol inhibits the reaction [Niacinamide results in increased acetylation of RUNX2 protein] | 22539994 |
D000077185 | Resveratrol | Resveratrol inhibits the reaction [TNFSF11 protein results in decreased expression of RUNX2 protein] | 21239502 |
D000077185 | Resveratrol | Resveratrol promotes the reaction [[SIRT1 protein binds to EP300 protein] which binds to RUNX2 protein] | 21239502 |
D000077185 | Resveratrol | Resveratrol promotes the reaction [SIRT1 protein binds to RUNX2 protein] | 21239502 |
D000077185 | Resveratrol | Resveratrol results in decreased acetylation of RUNX2 protein | 22539994 |
D000077185 | Resveratrol | [Resveratrol results in increased activity of SIRT1 protein] promotes the reaction [SIRT1 protein binds to RUNX2 protein] | 22539994 |
D000077185 | Resveratrol | Resveratrol results in increased expression of RUNX2 protein | 22539994 |
D000077185 | Resveratrol | SIRT1 protein affects the reaction [Resveratrol results in decreased acetylation of RUNX2 protein] | 22539994 |
D000077185 | Resveratrol | 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Resveratrol results in increased expression of RUNX2 mRNA] | 17689939 |
D000077185 | Resveratrol | Fulvestrant inhibits the reaction [Resveratrol results in increased expression of RUNX2 mRNA] | 17689939 |
D000077185 | Resveratrol | Resveratrol promotes the reaction [[SIRT1 protein binds to FOXO3 protein] which binds to RUNX2 3' UTR] | 21713995 |
D000077185 | Resveratrol | Resveratrol promotes the reaction [[[SIRT1 protein binds to FOXO3 protein] which binds to RUNX2 3' UTR] which results in increased expression of RUNX2 mRNA] | 21713995; 21713995; |
D000077185 | Resveratrol | Resveratrol results in increased expression of RUNX2 mRNA | 17689939; 21713995; 21745208; |
D000077185 | Resveratrol | Resveratrol results in increased expression of RUNX2 mRNA | 19665018 |
D000077185 | Resveratrol | Resveratrol results in increased expression of RUNX2 mRNA | 16813520 |
D000077185 | Resveratrol | [Resveratrol promotes the reaction [SIRT1 protein binds to RUNX2 protein]] inhibits the reaction [Niacinamide results in increased expression of PPARG] | 22539994 |
D000077185 | Resveratrol | [Resveratrol promotes the reaction [SIRT1 protein binds to RUNX2 protein]] which results in decreased activity of NCOR1 protein | 22539994 |
D000077185 | Resveratrol | [Resveratrol results in decreased acetylation of RUNX2 protein] inhibits the reaction [Niacinamide results in increased expression of PPARG] | 22539994 |
D000077185 | Resveratrol | [Resveratrol results in decreased acetylation of RUNX2 protein] which affects the activity of NCOR1 protein | 22539994 |
C009172 | rhodioloside | rhodioloside results in increased activity of RUNX2 protein | 24055767 |
C009172 | rhodioloside | rhodioloside results in increased expression of RUNX2 mRNA | 24055767 |
D012256 | Riboflavin | Riboflavin analog results in increased expression of RUNX2 protein | 20688149 |
D000077154 | Rosiglitazone | Rosiglitazone results in decreased expression of RUNX2 | 17993761 |
D000077154 | Rosiglitazone | Rosiglitazone results in decreased expression of RUNX2 mRNA | 12021203; 14500573; 23086663; 23322813; 25932594; |
D000077154 | Rosiglitazone | Rosiglitazone results in increased expression of RUNX2 mRNA | 15591153 |
D012402 | Rotenone | Rotenone results in decreased expression of RUNX2 mRNA | 29331484 |
C085746 | rottlerin | rottlerin inhibits the reaction [FGF2 protein results in increased activity of RUNX2 protein] | 12403780 |
C085746 | rottlerin | rottlerin inhibits the reaction [FGF2 protein results in increased expression of RUNX2 mRNA] | 12403780 |
C101044 | RTKI cpd | RTKI cpd results in decreased expression of RUNX2 mRNA | 20197312 |
C093642 | SB 203580 | [pyrazolanthrone co-treated with SB 203580 co-treated with 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one] inhibits the reaction [Quercetin results in increased expression of RUNX2 mRNA] | 26136938 |
D012822 | Silicon Dioxide | Silicon Dioxide analog results in increased expression of RUNX2 mRNA | 25895662 |
D019821 | Simvastatin | Simvastatin results in increased expression of RUNX2 | 20381859 |
D019821 | Simvastatin | DKK1 inhibits the reaction [Simvastatin results in increased expression of RUNX2 mRNA] | 22058016 |
D019821 | Simvastatin | farnesyl pyrophosphate inhibits the reaction [Simvastatin inhibits the reaction [TNF protein inhibits the reaction [BMP2 results in increased expression of RUNX2 mRNA]]] | 18310456 |
D019821 | Simvastatin | geranylgeranyl pyrophosphate inhibits the reaction [Simvastatin inhibits the reaction [TNF protein inhibits the reaction [BMP2 results in increased expression of RUNX2 mRNA]]] | 18310456 |
D019821 | Simvastatin | Simvastatin inhibits the reaction [BMP2 results in increased expression of RUNX2 mRNA] | 18310456 |
D019821 | Simvastatin | Simvastatin inhibits the reaction [TNF protein inhibits the reaction [BMP2 results in increased expression of RUNX2 mRNA]] | 18310456 |
D019821 | Simvastatin | Simvastatin results in increased expression of RUNX2 mRNA | 20417880; 22058016; |
C017947 | sodium arsenite | sodium arsenite results in increased expression of RUNX2 mRNA | 29301061 |
C017947 | sodium arsenite | sodium arsenite results in decreased expression of RUNX2 mRNA | 28206643 |
D012969 | Sodium Fluoride | Sodium Fluoride results in decreased expression of RUNX2 mRNA | 26339601 |
D012969 | Sodium Fluoride | [Sodium Fluoride co-treated with Aluminum Chloride] results in increased expression of RUNX2 mRNA | 21560300 |
D012969 | Sodium Fluoride | DKK1 protein inhibits the reaction [Sodium Fluoride results in increased expression of RUNX2 mRNA] | 24300170 |
D012969 | Sodium Fluoride | DKK1 protein inhibits the reaction [Sodium Fluoride results in increased expression of RUNX2 protein] | 24300170 |
D012969 | Sodium Fluoride | Sodium Fluoride affects the expression of RUNX2 mRNA | 25132241 |
D012969 | Sodium Fluoride | Sodium Fluoride results in increased expression of RUNX2 mRNA | 24300170 |
D012969 | Sodium Fluoride | Sodium Fluoride results in increased expression of RUNX2 protein | 24300170 |
D053260 | Soot | Soot results in decreased expression of RUNX2 mRNA | 23634900 |
D013311 | Streptozocin | Streptozocin results in decreased expression of RUNX2 mRNA | 25617479 |
C000615490 | Strontium-90 | Strontium-90 affects the expression of RUNX2 mRNA | 23161408 |
D004113 | Succimer | [Succimer binds to Magnetite Nanoparticles] which results in decreased expression of RUNX2 mRNA | 21641980 |
D004113 | Succimer | [Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of RUNX2 mRNA | 26378955 |
C446685 | systhane | systhane affects the expression of RUNX2 mRNA | 24704097 |
D016559 | Tacrolimus | Tacrolimus results in decreased expression of RUNX2 mRNA | 15780950 |
C061133 | tamibarotene | tamibarotene results in decreased expression of RUNX2 mRNA | 15498508 |
C021751 | tanshinone | MIR322 mRNA inhibits the reaction [tanshinone results in increased expression of RUNX2 protein] | 31306638 |
C021751 | tanshinone | pyrazolanthrone inhibits the reaction [tanshinone results in increased expression of RUNX2 protein] | 31306638 |
C021751 | tanshinone | tanshinone results in increased expression of RUNX2 protein | 31306638 |
C087114 | tebuconazole | tebuconazole results in decreased expression of RUNX2 mRNA | 30458266 |
C046393 | tert-butylphenyl diphenyl phosphate | tert-butylphenyl diphenyl phosphate results in decreased expression of RUNX2 mRNA | 30561715 |
C020806 | tetrabromobisphenol A | tetrabromobisphenol A results in decreased expression of RUNX2 mRNA | 25777084 |
D013749 | Tetrachlorodibenzodioxin | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of RUNX2 mRNA] | 23625689 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin affects the expression of RUNX2 mRNA | 30203000 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in increased expression of RUNX2 mRNA | 22903824; 23625689; 26159488; 27913140; |
D013749 | Tetrachlorodibenzodioxin | AHR protein affects the reaction [Tetrachlorodibenzodioxin results in decreased expression of RUNX2 mRNA] | 19264158 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin affects the expression of RUNX2 mRNA | 24704097 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to RUNX2 gene] | 20819909 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in decreased expression of RUNX2 mRNA | 19264158; 24058054; |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in increased expression of RUNX2 mRNA | 17586704; 20819909; 27913140; |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in decreased expression of RUNX2 mRNA | 28077779 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in decreased expression of RUNX2 mRNA | 19201780; 19264158; |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in increased expression of RUNX2 mRNA | 27913140 |
D013755 | Tetradecanoylphorbol Acetate | [Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of RUNX2 mRNA | 25613284 |
D013893 | Thiram | Thiram results in decreased expression of RUNX2 mRNA | 24235232 |
D013893 | Thiram | VEGFA protein affects the reaction [Thiram results in decreased expression of RUNX2 mRNA] | 24235232 |
D013928 | Thromboxane A2 | Thromboxane A2 results in increased expression of RUNX2 mRNA | 27050768 |
D013928 | Thromboxane A2 | Thromboxane A2 results in increased expression of RUNX2 protein | 27050768 |
D014028 | Tobacco Smoke Pollution | Tobacco Smoke Pollution results in increased expression of RUNX2 mRNA | 18087596 |
D014212 | Tretinoin | anacardic acid inhibits the reaction [Tretinoin results in increased expression of RUNX2 mRNA] | 24819975 |
D014212 | Tretinoin | ginkgolic acid inhibits the reaction [Tretinoin results in increased expression of RUNX2 mRNA] | 24819975 |
D014212 | Tretinoin | Tretinoin results in decreased expression of RUNX2 mRNA | 15498508 |
D014212 | Tretinoin | Tretinoin results in increased expression of RUNX2 mRNA | 21934132; 24819975; |
D014212 | Tretinoin | Tretinoin results in increased expression of RUNX2 mRNA | 16350840 |
C011559 | tributyltin | tributyltin results in decreased expression of RUNX2 mRNA | 23322813; 24513447; 25777084; 25932594; |
C012589 | trichostatin A | trichostatin A results in increased expression of RUNX2 mRNA | 24935251 |
D014260 | Triclosan | Triclosan results in increased expression of RUNX2 mRNA | 30510588 |
C053549 | triflumizol | triflumizol results in decreased expression of RUNX2 mRNA | 23086663 |
C015559 | trimellitic anhydride | trimellitic anhydride results in increased expression of RUNX2 mRNA | 19042947 |
C005445 | triphenyl phosphate | triphenyl phosphate results in decreased expression of RUNX2 mRNA | 30561715 |
D000077288 | Troglitazone | Troglitazone results in decreased expression of RUNX2 mRNA | 16813520; 19122273; |
D000077288 | Troglitazone | Troglitazone inhibits the reaction [BMP2 protein results in increased expression of RUNX2 mRNA] | 19122273 |
D014414 | Tungsten | Tungsten results in decreased expression of RUNX2 mRNA | 26865663 |
C113580 | U 0126 | U 0126 inhibits the reaction [Ascorbic Acid results in increased expression of RUNX2 mRNA] | 20530736 |
C113580 | U 0126 | U 0126 inhibits the reaction [Palmitic Acid results in increased expression of RUNX2 mRNA] | 24080574 |
D014635 | Valproic Acid | [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RUNX2 mRNA | 27188386 |
D014635 | Valproic Acid | Valproic Acid results in decreased methylation of RUNX2 gene | 29154799 |
D014635 | Valproic Acid | Valproic Acid results in increased expression of RUNX2 mRNA | 23179753; 24383497; 24935251; 26272509; 28001369; |
D014635 | Valproic Acid | Valproic Acid results in decreased expression of RUNX2 mRNA | 23042728 |
D014638 | Vanadates | Vanadates results in increased expression of RUNX2 mRNA | 22714537 |
D001335 | Vehicle Emissions | Vehicle Emissions results in increased methylation of RUNX2 gene | 25560391 |
D014801 | Vitamin A | [Cryptoxanthins co-treated with Vitamin A] results in increased expression of RUNX2 mRNA | 15962303 |
D014812 | Vitamin K | Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of RUNX2 mRNA] | 23117658 |
D014812 | Vitamin K | [Warfarin co-treated with Vitamin K] results in increased expression of RUNX2 mRNA | 23117658 |
D010837 | Vitamin K 1 | Losartan affects the reaction [[Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 mRNA] | 27412937 |
D010837 | Vitamin K 1 | Losartan affects the reaction [[Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 protein] | 27412937 |
D010837 | Vitamin K 1 | [Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 mRNA | 27412937 |
D010837 | Vitamin K 1 | [Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 protein | 27412937 |
D024482 | Vitamin K 2 | PTH protein promotes the reaction [Vitamin K 2 results in increased expression of RUNX2 protein] | 30639440 |
D024482 | Vitamin K 2 | Vitamin K 2 affects the reaction [PTH protein results in increased expression of RUNX2 protein] | 30639440 |
D024482 | Vitamin K 2 | Vitamin K 2 results in increased expression of RUNX2 protein | 30639440 |
D014859 | Warfarin | Warfarin inhibits the reaction [BMP2 protein results in increased activity of RUNX2 protein] | 21910061 |
D014859 | Warfarin | Warfarin inhibits the reaction [RUNX2 protein results in increased expression of ALPL mRNA] | 21910061 |
D014859 | Warfarin | Warfarin inhibits the reaction [RUNX2 protein results in increased expression of BGLAP mRNA] | 21910061 |
D014859 | Warfarin | Losartan affects the reaction [[Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 mRNA] | 27412937 |
D014859 | Warfarin | Losartan affects the reaction [[Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 protein] | 27412937 |
D014859 | Warfarin | Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of RUNX2 mRNA] | 23117658 |
D014859 | Warfarin | [Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 mRNA | 27412937 |
D014859 | Warfarin | [Warfarin co-treated with Vitamin K 1] affects the expression of RUNX2 protein | 27412937 |
D014859 | Warfarin | [Warfarin co-treated with Vitamin K] results in increased expression of RUNX2 mRNA | 23117658 |
D014859 | Warfarin | SNAI2 protein promotes the reaction [[TP53 protein results in increased susceptibility to Warfarin] which results in increased expression of RUNX2 mRNA] | 29358327 |
D014859 | Warfarin | SNAI2 protein promotes the reaction [[TP53 protein results in increased susceptibility to Warfarin] which results in increased expression of RUNX2 protein] | 29358327 |
D014859 | Warfarin | [TP53 protein results in increased susceptibility to Warfarin] which results in increased expression of RUNX2 mRNA | 29358327 |
D014859 | Warfarin | [TP53 protein results in increased susceptibility to Warfarin] which results in increased expression of RUNX2 protein | 29358327 |
D015032 | Zinc | Zinc deficiency results in decreased expression of RUNX2 mRNA | 21893222 |
D015032 | Zinc | Zinc deficiency results in decreased expression of RUNX2 protein | 21893222 |
C016837 | zinc chloride | [zinc chloride co-treated with N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine] results in increased expression of RUNX2 protein | 19913120 |
C016837 | zinc chloride | [zinc chloride deficiency co-treated with N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine] results in decreased expression of RUNX2 mRNA | 19913120 |
C016837 | zinc chloride | [zinc chloride deficiency co-treated with N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine] results in decreased expression of RUNX2 protein | 19913120 |
D019287 | Zinc Sulfate | Cycloheximide inhibits the reaction [Zinc Sulfate results in increased expression of RUNX2 mRNA] | 18327666 |
D019287 | Zinc Sulfate | Dichlororibofuranosylbenzimidazole inhibits the reaction [Zinc Sulfate results in increased expression of RUNX2 mRNA] | 18327666 |
D019287 | Zinc Sulfate | Zinc Sulfate results in increased expression of RUNX2 mRNA | 18327666 |
D000077211 | Zoledronic Acid | Zoledronic Acid results in increased expression of RUNX2 mRNA | 25596134 |
Keyword ID | Keyword Term |
---|---|
KW-0025 | Alternative splicing |
KW-0221 | Differentiation |
KW-0225 | Disease mutation |
KW-0238 | DNA-binding |
KW-1017 | Isopeptide bond |
KW-0488 | Methylation |
KW-0539 | Nucleus |
KW-0597 | Phosphoprotein |
KW-0621 | Polymorphism |
KW-1185 | Reference proteome |
KW-0804 | Transcription |
KW-0805 | Transcription regulation |
KW-0832 | Ubl conjugation |
PROSITE ID | PROSITE Term |
---|---|
PS51062 | RUNT |