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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for COL12A1
check button Gene summary
Basic gene informationGene symbolCOL12A1
Gene namecollagen, type XII, alpha 1
SynonymsBA209D8.1|COL12A1L|DJ234P15.1
CytomapUCSC genome browser: 6q12-q13
Type of geneprotein-coding
RefGenesNM_004370.5,
NM_080645.2,
Descriptioncollagen alpha-1(XII) chaincollagen type XII proteoglycan
Modification date20141207
dbXrefs MIM : 120320
HGNC : HGNC
Ensembl : ENSG00000111799
HPRD : 00377
HPRD : 00378
Vega : OTTHUMG00000015051
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_COL12A1
BioGPS: 1303
PathwayNCI Pathway Interaction Database: COL12A1
KEGG: COL12A1
REACTOME: COL12A1
Pathway Commons: COL12A1
ContextiHOP: COL12A1
ligand binding site mutation search in PubMed: COL12A1
UCL Cancer Institute: COL12A1
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesTiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)Bone marrowSoft tissueSkin
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)LAMLSARCSKCM
Reference showing the relevant tissue of COL12A1
Description by TissGene annotationsFused withTSGene
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID


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TissGeneExp for COL12A1

check button Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
gene exp


check button Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01)
gene isoform exp


check button Gene expressions across normal tissues of GTEx data
(GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct)
- Here, we shows the matched tissue types only among our 28 cancer types.
normal gene exp


check button Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
BRCA3.6620609772.1337092221.5283517541.02E-207.72E-20
HNSC3.005840842-0.2473498553.2531906983.89E-177.29E-15
COAD2.1924632040.353917051.8385461544.97E-062.44E-05
KIRP-1.1700678060.518122819-1.6881906255.06E-062.22E-05
KICH-1.5572161810.875555819-2.4327723.40E-091.93E-08
STAD1.8500603190.7852415691.064818750.001720.008143747


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TissGene-miRNA for COL12A1

check button Significantly anti-correlated miRNAs of TissGene across 28 cancer types
(Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016)
(TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21)
(TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16)
(Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25))
Cancer typemiRNA idmiRNA accessionP-val.Coeff.# samples


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TissGeneMut for COL12A1
TissGeneSNV for COL12A1

check button nsSNV counts per each loci.
Different colors of circles represent different cancer types. Circle size denotes number of samples.
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)

* Click on the image to enlarge it in a new window.
SNV lollipop
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check button Somatic nucleotide variants of TissGene across 28 cancer types
(X-axis: cancer type and Y-axis: % of mutated samples)
The numbers in parentheses are numbers of samples with mutation (nsSNVs).
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.R1414*SKCM4
p.G2753CLUSC2
p.D1571NSKCM2
p.R933CSTAD2
p.S1049LUCEC2
p.S395LBRCA2
p.R1414XSKCM2
p.D893ELIHC2
p.S2232FSKCM2
p.G2398ESKCM2
p.R1965HSTAD2
p.K1344NCOAD2
p.V1823ILGG2
p.P2712LCESC1
p.T1120KTHYM1
p.S1977PCOAD1
p.K209TDLBC1
p.Q1788*BLCA1
p.R1128TSKCM1
p.R1779HSTAD1
p.E795KSKCM1
p.L2171SSTAD1
p.Q1805HPAAD1
p.G3018DLGG1
p.D1681YLUAD1
p.T95IREAD1
p.E1470KSKCM1
p.A2406TLUSC1
p.V2608FUCEC1
p.E1887KCESC1
p.Y2150HDLBC1
p.Y512DCOAD1
p.P1947LLUAD1
p.P2724TESCA1
p.R3035XSTAD1
p.S3051NTHYM1
p.N658KSKCM1
p.R1396QGBM1
p.R1434QSKCM1
p.S395LBLCA1
p.V1966IUCEC1
p.G3024SSKCM1
p.T684SLUAD1
p.P2976HUCEC1
p.R2627KSKCM1
p.D2933NSKCM1
p.V675FLUAD1
p.G2954RSKCM1
p.P2971ALUSC1
p.L203RSTAD1
p.P1729SSKCM1
p.L2819PSTAD1
p.E858*UCEC1
p.G872ESKCM1
p.R2056MSTAD1
p.P2865SSKCM1
p.R1031CSKCM1
p.E1429DSTAD1
p.S390RLUSC1
p.P2977SSKCM1
p.W1773LSKCM1
p.Q2788PCESC1
p.I916NBRCA1
p.E1887*LUAD1
p.L1813RSTAD1
p.R581CSTAD1
p.I2081TSTAD1
p.P1525LSKCM1
p.G2027*LUAD1
p.R1863LLUSC1
p.S450RLIHC1
p.G2105DSARC1
p.G2545VLUAD1
p.E674*STAD1
p.E471KSKCM1
p.Q857KBLCA1
p.W2136CLUAD1
p.V306AHNSC1
p.E311DLUAD1
p.E2355*ESCA1
p.G1136ABLCA1
p.H1354NKIRP1
p.S920LLGG1
p.Y2516HBLCA1
p.P1090SCESC1
p.G2969DUCEC1
p.S615FHNSC1
p.K2532NCOAD1
p.E69*UCEC1
p.A2566TCOAD1
p.R1031CUCEC1
p.S2518LCESC1
p.D2592YLUAD1
p.R1594HSTAD1
p.F2326LBLCA1
p.E1418KSKCM1
p.D1258ESTAD1
p.M1490IUCEC1
p.P2784LPRAD1
p.S469IPCPG1
p.S582*LUAD1
p.N2338TUCEC1
p.Q2925*SKCM1
p.R1396QSTAD1
p.G2027ESTAD1
p.R2964WPCPG1
p.G2896RSTAD1
p.T827MBRCA1
p.A300VSTAD1
p.F2843VCOAD1
p.P3022SSKCM1
p.P2791LSKCM1
p.G839RSKCM1
p.K2474QSKCM1
p.P1656SSTAD1
p.Q2940RSTAD1
p.T969AKICH1
p.G2520VLUAD1
p.S974LSKCM1
p.R1742HSTAD1
p.M2904ILIHC1
p.Q2788*LUAD1
p.V1780LLUAD1
p.G2335ELUAD1
p.T2742IPRAD1
p.P2195LSKCM1
p.G2957ESKCM1
p.S639RDLBC1
p.T786KSARC1
p.E621QHNSC1
p.K123NUCEC1
p.R2779HSTAD1
p.P590SLUAD1
p.L1444VLUAD1
p.D2088NBLCA1
p.T372ALGG1
p.E1886DLGG1
p.G2020CLUAD1
p.D2484ELUAD1
p.T1539MLIHC1
p.S2040NUCEC1
p.E2493KTHYM1
p.P3023LLUSC1
p.A1867TCOAD1
p.R1594CCOAD1
p.A2953TSTAD1
p.V2480MPRAD1
p.G1792ALUAD1
p.G2013RSKCM1
p.D2189YLUAD1
p.G2975EBLCA1
p.M1582IBLCA1
p.E2493KUCEC1
p.R476SLUAD1
p.M343ISKCM1
p.E1342KUCEC1
p.P2509TTHYM1
p.E2355XESCA1
p.R3035*STAD1
p.S2437FSKCM1
p.I793TLIHC1
p.L1860FSTAD1
p.K2532NREAD1
p.T1659KKIRP1
p.R2807CSKCM1
p.P120TTHYM1
p.A957VESCA1
p.R1054LLIHC1
p.E2543QCOAD1
p.G1232VLUAD1
p.D2728YUCEC1
p.A1679TSARC1
p.R776GBRCA1
p.E2988*BLCA1
p.G1232VSARC1
p.P3022SGBM1
p.L72FLAML1
p.S554*OV1
p.V1655MSTAD1
p.G1310EBLCA1
p.S2647RESCA1
p.L2999MSTAD1
p.G854VCESC1
p.W2217LLUAD1
p.D910YCOAD1
p.R476KSTAD1
p.A561VPRAD1
p.D910YUCEC1
p.P1588HSTAD1
p.K1154TUCEC1
p.P2838SSKCM1
p.W1864*ESCA1
p.R972ILUAD1
p.S2657*HNSC1
p.T901ASTAD1
p.R178IUCEC1
p.V1521MCOAD1
p.M961LREAD1
p.P211SSKCM1
p.G2854DCOAD1
p.P337SCESC1
p.I2334TSTAD1
p.K1608ETHYM1
p.A573PLUSC1
p.R1804WCOAD1
p.T1516ASTAD1
p.D2137YSKCM1
p.P825HSTAD1
p.R1396QSKCM1
p.F2456YKIRC1
p.G2435SSTAD1
p.S3051RSTAD1
p.K2384TBLCA1
p.R3010GLUAD1
p.A1690TSTAD1
p.R581CBLCA1
p.G1839CLUAD1
p.G3001ASTAD1
p.V822FLUAD1
p.A2700TCOAD1
p.E2671*UCEC1
p.S1777GLIHC1
p.K2532NUCEC1
p.V1823IUCEC1
p.I1367VLIHC1
p.H42YSKCM1
p.S1049LHNSC1
p.V1761ELUSC1
p.A205PLGG1
p.V442ALGG1
p.A669VUVM1
p.V2746ACOAD1
p.S1680LBLCA1
p.Y1897CTHCA1
p.L2568PCOAD1
p.R1291SLUAD1
p.V1823IESCA1
p.D2514NHNSC1
p.M830TLIHC1
p.R727QSKCM1
p.K1037TESCA1
p.R1104*HNSC1
p.P2311LSKCM1
p.M371ISARC1
p.K2675NUCEC1
p.E2668GSTAD1
p.G876WPRAD1
p.E1609_spliceLUSC1
p.A1937TCOAD1
p.F709SUCEC1
p.P2119SLUAD1
p.P2785LSKCM1
p.P2778SLGG1
p.Q1873LLUAD1
p.R2905QREAD1
p.V53LTGCT1
p.P66LLIHC1
p.T388MPCPG1
p.E69KSKCM1
p.V1358MPRAD1
p.Q2053EHNSC1
p.R2764ILUAD1
p.S117LPAAD1
p.R1104QCOAD1
p.E2531KSKCM1
p.Y1117FLUAD1
p.E344VSARC1
p.F1585CCOAD1
p.W925CLUAD1
p.R1031CSTAD1
p.R1987HCOAD1
p.G3001DSTAD1
p.R1965HESCA1
p.L2391ICOAD1
p.E471XLIHC1
p.P3038LSKCM1
p.V2480MTHYM1
p.G3021CLUAD1
p.V2746IUCEC1
p.P3040SSKCM1
p.R1924HTHYM1
p.S1768NSKCM1
p.P2614SLAML1
p.H2172RUCEC1
p.D2601NCOAD1
p.K2873NESCA1
p.R1224LLUAD1
p.P1588LCHOL1
p.R1031CGBM1
p.E332KSKCM1
p.V2272GSTAD1
p.G236ESKCM1
p.N1849KOV1
p.V442LLUAD1
p.P1752LSKCM1
p.P2736SSKCM1
p.E968KLUAD1
p.P1067SSTAD1
p.L481ISTAD1
p.V912FLUAD1
p.E668KSKCM1
p.R1031HPRAD1
p.V1218MCOAD1
p.R558TBRCA1
p.I2096TLUAD1
p.Q2187RLGG1
p.R933HCOAD1
p.S1580NCOAD1
p.E674XSTAD1
p.S289YSTAD1
p.R1104XTHYM1
p.P2311SSKCM1
p.T1986MSTAD1
p.A1332PLUAD1
p.W2417*SKCM1
p.D1339YLAML1
p.E283*UCEC1
p.R2696SLUAD1
p.E1429XCOAD1
p.A588SSTAD1
p.E716GSTAD1
p.Y2527HESCA1
p.P260SSKCM1
p.T290PSKCM1
p.V1266MSTAD1
p.E38VBRCA1
p.M1296VLIHC1
p.S920LLUSC1
p.R2807HUCEC1
p.L1147RSTAD1
p.T2740KLUSC1
p.A888TKIRP1
p.R1568XLIHC1
p.S134YBLCA1
p.S2861GSTAD1
p.R2244SREAD1
p.P2017RESCA1
p.T1652ASKCM1
p.K1814RSKCM1
p.S2937ILIHC1
p.L2171VBRCA1
p.Q774*BLCA1
p.Y158NBRCA1
p.A15TCESC1
p.R1235KUCEC1
p.G2678ESKCM1
p.R2980QBLCA1
p.A288TUCEC1
p.D1816YPAAD1
p.E1436KLUSC1
p.Q1288KKIRC1
p.P291TLGG1
p.R558IESCA1
p.E968DLUSC1
p.C317YUCEC1
p.G1486VLUAD1
p.G2860*LUAD1
p.P2061SBRCA1
p.W2128*BLCA1
p.E1712KSKCM1
p.D2370HLUAD1
p.G126EUCEC1
p.R1872CSKCM1
p.V2480ALUAD1
p.P3053ASTAD1
p.A703VCOAD1
p.G2984RBLCA1
p.L2415SSKCM1
p.S318*LUAD1
p.A1338VTHYM1
p.S889TLUAD1
p.H1256PLUSC1
p.R1568*LIHC1
p.A880TREAD1
p.G330RLUAD1
p.I1899FLIHC1
p.D1246NSKCM1
p.S1554GSTAD1
p.R1924HSTAD1
p.V257LPAAD1
p.S2364LSKCM1
p.E1793KSKCM1
p.C2741FACC1
p.G1678RLUAD1
p.T2408MESCA1
p.E2012VSKCM1
p.P1915TBLCA1
p.G2011ESKCM1
p.R3035*UCEC1
p.Y2667NLUAD1
p.S1389CBLCA1
p.R1953CLUAD1
p.D637NSKCM1
p.A579VPRAD1
p.S329IGBM1
p.G2824VLUAD1
p.T2618MBRCA1
p.V2480MSTAD1
p.G2890RSKCM1
p.D1484NSKCM1
p.T969ASTAD1
p.M523LBRCA1
p.C133WLUSC1
p.A703VESCA1
p.A1281TUCEC1
p.R1031CBLCA1
p.G2050RSKCM1
p.G2975*LUAD1
p.D2601VLUAD1
p.D2046NBRCA1
p.T2408MUCEC1
p.A2097TUCEC1
p.P2790TLUAD1
p.T1910NCOAD1
p.R933HSTAD1
p.R1091GLUSC1
p.A2700SLUSC1
p.A373TSTAD1
p.P929SSKCM1
p.C1376SESCA1
p.E3008KUCEC1
p.R1599*SKCM1
p.L2237VHNSC1
p.G1792WSTAD1
p.G2452WLUAD1
p.V750LPRAD1


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TissGeneCNV for COL12A1

check button Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples)
(TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16)
CNV


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TissGeneFusions for COL12A1

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP
Chimerdb3.0ChiTaRsNABP376743INS-IGF2-COL12A1chr11:2158516chr6:75904593
Chimerdb3.0ChiTaRsNABF108734KAZN-COL12A1chr1:15444539chr6:75829120
Chimerdb3.0ChiTaRsNAAW995260MAST4-COL12A1chr5:66340149chr6:75862151
Chimerdb3.0ChiTaRsNABF154542COL12A1-COL12A1chr6:75795888chr6:75795872
Chimerdb3.0ChiTaRsNAAL359627COL12A1-COL12A1chr6:75794622chr6:75794042
Chimerdb3.0ChiTaRsNAAA541569COL12A1-COL12A1chr6:75794213chr6:75794202
Chimerdb3.0ChiTaRsNABM987506COL12A1-TMC5chr6:75796003chr16:19462088
Chimerdb3.0ChiTaRsNABU945056COL12A1-TAGLNchr6:75804861chr11:117075021
Chimerdb3.0ChiTaRsNABF843989PRDM10-COL12A1chr11:129784637chr6:75825550


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TissGeneNet for COL12A1

check button Co-expressed gene networks based on protein-protein interaction data (CePIN)
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(PINA2 ppi data)
BRCA (tumor)BRCA (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
COAD (tumor)COAD (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
HNSC (tumor)HNSC (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
KICH (tumor)KICH (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
KIRC (tumor)KIRC (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
KIRP (tumor)KIRP (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
LIHC (tumor)LIHC (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
LUAD (tumor)LUAD (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
LUSC (tumor)LUSC (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
PRAD (tumor)PRAD (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
STAD (tumor)STAD (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point
THCA (tumor)THCA (normal)
COL12A1, KIAA0101, MYBPC2, DYSF (tumor)COL12A1, KIAA0101, MYBPC2, DYSF (normal)
bullet pointbullet point


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TissGeneProg for COL12A1

check button Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image to enlarge it in a new window.
survival 1

check button Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 2

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 3

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 4

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TissGeneClin for COL12A1
TissGeneDrug for COL12A1

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


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TissGeneDisease for COL12A1

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0026848Myopathy2BeFree
umls:C0006142Malignant neoplasm of breast1BeFree
umls:C0009402Colorectal Carcinoma1BeFree
umls:C0013720Ehlers-Danlos Syndrome1BeFree
umls:C0019348Herpes Simplex Infections1BeFree
umls:C0028754Obesity1BeFree
umls:C0038604Subungual exostoses1BeFree
umls:C0221290Chondromyxoid fibroma1BeFree
umls:C0410000Overlap syndrome1BeFree
umls:C0678222Breast Carcinoma1BeFree
umls:C1262148Grip strength decreased1BeFree
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