CleftGeneDB-Search

Gene: GREM1

Basic information

Tag	Content
Uniprot ID	O60565; Q52LV3; Q8N914; Q8N936;
Entrez ID	26585
Genbank protein ID	BAA84462.1; AAH69525.1; BAC04643.1; AAH93778.1; AAI01612.1; AAP69985.1; AAC39725.1; AAG23891.1; AAF06677.1;
Genbank nucleotide ID	NM_013372.6; NM_001191323.1;
Ensembl protein ID	ENSP00000498897; ENSP00000498605; ENSP00000488158; ENSP00000498763; ENSP00000498748; ENSP00000300177; ENSP00000453141; ENSP00000323101;
Ensembl nucleotide ID	ENSG00000276886; ENSG00000166923; ENSG00000282046;
Gene name	Gremlin-1
Gene symbol	GREM1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	26043427
Functional description	Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro) (PubMed:27036124). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed (By similarity).
Sequence	MSRTAYTVGA LLLLLGTLLP AAEGKKKGSQ GAIPPPDKAQ HNDSEQTQSP QQPGSRNRGR 60 GQGRGTAMPG EEVLESSQEA LHVTERKYLK RDWCKTQPLK QTIHEEGCNS RTIINRFCYG 120 QCNSFYIPRH IRKEEGSFQS CSFCKPKKFT TMMVTLNCPE LQPPTKKKRV TRVKQCRCIS 180 IDLD 184

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.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
5AEJ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GREM1	539079	A2VE87		Bos taurus	Prediction	More>>
1:1 ortholog	GREM1		A0A452E4N7		Capra hircus	Prediction	More>>
1:1 ortholog	GREM1	26585	O60565	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Grem1	23892	O70326		Mus musculus	Prediction	More>>
1:1 ortholog	GREM1		A0A287ABW3		Sus scrofa	Prediction	More>>
1:1 ortholog	GREM1	100342066	G1TUM4		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Grem1	50566	O35793		Rattus norvegicus	Prediction	More>>
1:1 ortholog	grem1b		A0A0R4IYE7		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
GREM1	rs16969681	Genotyping	26043427
GREM1	rs1258763	Genotyping	26043427
GREM1	rs16969816	Genotyping	26043427
GREM1	rs2280738	Sanger sequencing	32687624
GREM1	rs12915554 (Heterozygous; increase risk)	PCR-RFLP or T-ARMS-PCR	31650875
GREM1	rs3743105 (Heterozygous and dominant; reduce risk)	PCR-RFLP or T-ARMS-PCR	31650875
GREM1	rs1129456 (Heterozygous; positively associate risk)	PCR-RFLP or T-ARMS-PCR	31650875
GREM1	rs10318 (Homozygous; dominant andrecessive; reduce risk)	PCR-RFLP or T-ARMS-PCR	31650875
GREM1	c.4900C>T< p.Pro164Ser	Sanger sequencing	29489415
GREM1	c.182G>A; p.Gly61Asp	Sanger sequencing	29489415

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs768242805	p.Arg3Cys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32810992C>T	ExAC,gnomAD
rs761624816	p.Thr4Lys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32810996C>A	ExAC,gnomAD
rs776296145	p.Thr4Ala	missense variant	-	CHR_HSCHR15_4_CTG8:g.32810995A>G	ExAC,gnomAD
rs1200762767	p.Tyr6Cys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811002A>G	TOPMed,gnomAD
rs1280677560	p.Thr7Met	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811005C>T	gnomAD
rs1435968313	p.Val8Met	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811007G>A	gnomAD
rs1486980296	p.Ala10Thr	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811013G>A	gnomAD
rs1191361049	p.Gly16Glu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811032G>A	gnomAD
rs766332214	p.Leu19Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811041T>G	ExAC,gnomAD
rs148668967	p.Pro20Gln	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811044C>A	ESP,ExAC,gnomAD
rs1241168004	p.Lys26Asn	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811063G>T	TOPMed
rs1194984931	p.Lys26Gln	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811061A>C	TOPMed
rs199894051	p.Lys26Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811062A>G	ExAC,TOPMed,gnomAD
rs752903637	p.Gly28Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811067G>A	ExAC,gnomAD
rs1213382228	p.Ser29Tyr	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811071C>A	TOPMed
rs1401119450	p.Ala32Val	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811080C>T	gnomAD
rs1345683518	p.Ile33Phe	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811082A>T	TOPMed
rs756565137	p.Ile33Thr	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811083T>C	ExAC,gnomAD
rs779454972	p.Pro35Leu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811089C>T	ExAC,TOPMed,gnomAD
rs111262341	p.Pro35Ala	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811088C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000305327	p.Pro35Ala	missense variant	-	NC_000015.10:g.32730793C>G	ClinVar
rs779454972	p.Pro35Gln	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811089C>A	ExAC,TOPMed,gnomAD
rs768170664	p.Ala39Val	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811101C>T	ExAC,gnomAD
rs553840621	p.His41Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811107A>G	1000Genomes,ExAC
rs1043315001	p.Asn42Lys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811111T>A	TOPMed
rs1458721312	p.Asn42Asp	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811109A>G	gnomAD
rs945879966	p.Asn42Ser	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811110A>G	TOPMed,gnomAD
rs769422903	p.Asp43Asn	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811112G>A	ExAC,TOPMed,gnomAD
rs1200082572	p.Glu45Gly	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811119A>G	gnomAD
rs762082199	p.Gln46Leu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811122A>T	gnomAD
rs762082199	p.Gln46Pro	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811122A>C	gnomAD
rs545952537	p.Thr47Ile	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811125C>T	1000Genomes,ExAC,gnomAD
rs770819924	p.Gln48Leu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811128A>T	ExAC,gnomAD
rs774292923	p.Gln48His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811129G>T	ExAC,TOPMed,gnomAD
rs770819924	p.Gln48Pro	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811128A>C	ExAC,gnomAD
rs200285291	p.Gln52His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811141G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200285291	p.Gln52His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811141G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1454389131	p.Pro53Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811143C>G	TOPMed
rs754206331	p.Asn57His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811154A>C	ExAC,gnomAD
RCV000417252	p.Asn57His	missense variant	Hereditary mixed polyposis syndrome	NC_000015.10:g.32730859A>C	ClinVar
rs1278786063	p.Arg58Gln	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811158G>A	gnomAD
rs1345351965	p.Arg58Trp	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811157C>T	gnomAD
rs1230965844	p.Gly59Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811160G>A	gnomAD
rs779317921	p.Gln62Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811170A>G	ExAC,TOPMed,gnomAD
rs750874632	p.Arg64Trp	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811175C>T	ExAC,gnomAD
rs1484617645	p.Pro69Ser	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811190C>T	TOPMed
rs747649135	p.Gly70Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811193G>A	ExAC,gnomAD
rs747649135	p.Gly70Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811193G>C	ExAC,gnomAD
rs1479073274	p.Glu71Lys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811196G>A	gnomAD
rs777378898	p.Ser76Cys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811212C>G	ExAC,gnomAD
rs1236578712	p.Glu79Asp	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811222G>C	TOPMed
rs1312888226	p.Ala80Thr	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811223G>A	TOPMed
rs745880464	p.His82Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811230A>G	ExAC,TOPMed,gnomAD
rs771903480	p.Thr84Met	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811236C>T	ExAC,TOPMed,gnomAD
rs764435884	p.Glu85Val	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811239A>T	ExAC,gnomAD
rs764435884	p.Glu85Gly	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811239A>G	ExAC,gnomAD
rs776954783	p.Lys87Glu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811244A>G	ExAC,gnomAD
rs1340557778	p.Tyr88His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811247T>C	TOPMed,gnomAD
rs762087325	p.Lys90Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811254A>G	ExAC,gnomAD
rs762087325	p.Lys90Thr	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811254A>C	ExAC,gnomAD
rs1216397987	p.Arg91Gln	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811257G>A	TOPMed,gnomAD
rs1035305843	p.Gln101Ter	stop gained	-	CHR_HSCHR15_4_CTG8:g.32811286C>T	TOPMed
rs370674293	p.Ile103Val	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811292A>G	ESP,ExAC,TOPMed,gnomAD
rs759010741	p.His104Asn	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811295C>A	ExAC,TOPMed,gnomAD
rs752249342	p.Gly107Ala	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811305G>C	ExAC,gnomAD
rs1189656425	p.Asn109Asp	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811310A>G	gnomAD
rs1439294018	p.Arg111Cys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811316C>T	gnomAD
rs1259486563	p.Thr112Ile	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811320C>T	TOPMed
rs755568850	p.Ile113Val	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811322A>G	ExAC,gnomAD
rs1027553263	p.Ile114Val	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811325A>G	TOPMed,gnomAD
rs367676745	p.Asn115Ser	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811329A>G	ESP,ExAC,gnomAD
rs756849803	p.Arg116His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811332G>A	ExAC,gnomAD
rs34096580	p.Tyr119Ter	stop gained	-	CHR_HSCHR15_4_CTG8:g.32811342C>G	ESP,ExAC,TOPMed,gnomAD
rs777005561	p.Pro128Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811368C>G	ExAC,gnomAD
rs762152055	p.Arg129Lys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811371G>A	ExAC,TOPMed
rs1468958267	p.His130Tyr	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811373C>T	gnomAD
rs765373204	p.His130Leu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811374A>T	ExAC,gnomAD
rs145439767	p.Ile131Val	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811376A>G	ESP,ExAC,TOPMed,gnomAD
rs1233026052	p.Ile131Ser	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811377T>G	TOPMed
rs777740546	p.Arg132Gly	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811379C>G	ExAC,gnomAD
rs777740546	p.Arg132Trp	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811379C>T	ExAC,gnomAD
rs766891324	p.Lys133Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811383A>G	ExAC,gnomAD
rs1202298191	p.Glu134Lys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811385G>A	gnomAD
rs1354011335	p.Glu135Lys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811388G>A	TOPMed
rs1457535579	p.Gln139Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811401A>G	TOPMed,gnomAD
rs1382342425	p.Lys145Arg	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811419A>G	gnomAD
rs202104240	p.Thr150Ile	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811434C>T	ESP,ExAC,TOPMed,gnomAD
rs1467505239	p.Val154Ala	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811446T>C	gnomAD
rs199760237	p.Thr155Ala	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811448A>G	ExAC,TOPMed,gnomAD
RCV000766181	p.Leu156Phe	missense variant	-	NC_000015.10:g.32731156C>T	ClinVar
rs1446800680	p.Pro163Leu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811473C>T	gnomAD
rs1332974507	p.Pro164Ser	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811475C>T	gnomAD
rs1458654619	p.Arg169Thr	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811491G>C	gnomAD
rs1162318366	p.Thr171Ala	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811496A>G	TOPMed,gnomAD
rs1256642631	p.Arg172Leu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811500G>T	TOPMed,gnomAD
rs1256642631	p.Arg172His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811500G>A	TOPMed,gnomAD
rs748146251	p.Arg172Cys	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811499C>T	ExAC,gnomAD
rs1199299875	p.Lys174Glu	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811505A>G	gnomAD
rs763336404	p.Gln175His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811510G>C	ExAC,TOPMed,gnomAD
rs1190459895	p.Arg177His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811515G>A	gnomAD
rs942578260	p.Ile179Val	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811520A>G	TOPMed,gnomAD
rs368726521	p.Ile179Thr	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811521T>C	ESP,TOPMed
rs760105878	p.Asp184His	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811535G>C	ExAC,gnomAD
rs767985360	p.Asp184Gly	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811536A>G	ExAC,gnomAD
rs768242805	p.Arg3Cys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261437C>T	ExAC,gnomAD
rs761624816	p.Thr4Lys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261441C>A	ExAC,gnomAD
rs776296145	p.Thr4Ala	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261440A>G	ExAC,gnomAD
rs1200762767	p.Tyr6Cys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261447A>G	TOPMed,gnomAD
rs1280677560	p.Thr7Met	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261450C>T	gnomAD
rs1435968313	p.Val8Met	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261452G>A	gnomAD
rs1486980296	p.Ala10Thr	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261458G>A	gnomAD
rs1191361049	p.Gly16Glu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261477G>A	gnomAD
rs766332214	p.Leu19Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261486T>G	ExAC,gnomAD
rs148668967	p.Pro20Gln	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261489C>A	ESP,ExAC,gnomAD
rs1194984931	p.Lys26Gln	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261506A>C	TOPMed
rs1241168004	p.Lys26Asn	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261508G>T	TOPMed
rs199894051	p.Lys26Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261507A>G	ExAC,TOPMed,gnomAD
rs752903637	p.Gly28Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261512G>A	ExAC,gnomAD
rs1213382228	p.Ser29Tyr	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261516C>A	TOPMed
rs1401119450	p.Ala32Val	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261525C>T	gnomAD
rs1345683518	p.Ile33Phe	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261527A>T	TOPMed
rs756565137	p.Ile33Thr	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261528T>C	ExAC,gnomAD
rs779454972	p.Pro35Leu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261534C>T	ExAC,TOPMed,gnomAD
rs779454972	p.Pro35Gln	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261534C>A	ExAC,TOPMed,gnomAD
rs111262341	p.Pro35Ala	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261533C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768170664	p.Ala39Val	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261546C>T	ExAC,gnomAD
rs553840621	p.His41Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261552A>G	1000Genomes,ExAC
rs1043315001	p.Asn42Lys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261556T>A	TOPMed
rs945879966	p.Asn42Ser	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261555A>G	TOPMed,gnomAD
rs1458721312	p.Asn42Asp	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261554A>G	gnomAD
rs769422903	p.Asp43Asn	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261557G>A	ExAC,TOPMed,gnomAD
rs1200082572	p.Glu45Gly	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261564A>G	gnomAD
rs762082199	p.Gln46Leu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261567A>T	gnomAD
rs762082199	p.Gln46Pro	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261567A>C	gnomAD
rs545952537	p.Thr47Ile	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261570C>T	1000Genomes,ExAC,gnomAD
rs774292923	p.Gln48His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261574G>T	ExAC,TOPMed,gnomAD
rs770819924	p.Gln48Pro	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261573A>C	ExAC,gnomAD
rs770819924	p.Gln48Leu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261573A>T	ExAC,gnomAD
rs200285291	p.Gln52His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261586G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200285291	p.Gln52His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261586G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1454389131	p.Pro53Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261588C>G	TOPMed
rs754206331	p.Asn57His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261599A>C	ExAC,gnomAD
rs1345351965	p.Arg58Trp	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261602C>T	gnomAD
rs1278786063	p.Arg58Gln	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261603G>A	gnomAD
rs1230965844	p.Gly59Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261605G>A	gnomAD
rs779317921	p.Gln62Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261615A>G	ExAC,TOPMed,gnomAD
rs750874632	p.Arg64Trp	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261620C>T	ExAC,gnomAD
rs1484617645	p.Pro69Ser	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261635C>T	TOPMed
rs747649135	p.Gly70Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261638G>A	ExAC,gnomAD
rs747649135	p.Gly70Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261638G>C	ExAC,gnomAD
rs1479073274	p.Glu71Lys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261641G>A	gnomAD
rs777378898	p.Ser76Cys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261657C>G	ExAC,gnomAD
rs1236578712	p.Glu79Asp	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261667G>C	TOPMed
rs1312888226	p.Ala80Thr	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261668G>A	TOPMed
rs745880464	p.His82Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261675A>G	ExAC,TOPMed,gnomAD
rs771903480	p.Thr84Met	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261681C>T	ExAC,TOPMed,gnomAD
rs764435884	p.Glu85Val	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261684A>T	ExAC,gnomAD
rs764435884	p.Glu85Gly	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261684A>G	ExAC,gnomAD
rs776954783	p.Lys87Glu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261689A>G	ExAC,gnomAD
rs1340557778	p.Tyr88His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261692T>C	TOPMed,gnomAD
rs762087325	p.Lys90Thr	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261699A>C	ExAC,gnomAD
rs762087325	p.Lys90Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261699A>G	ExAC,gnomAD
rs1216397987	p.Arg91Gln	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261702G>A	TOPMed,gnomAD
rs1035305843	p.Gln101Ter	stop gained	-	CHR_HSCHR15_6_CTG8:g.32261731C>T	TOPMed
rs370674293	p.Ile103Val	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261737A>G	ESP,ExAC,TOPMed,gnomAD
rs759010741	p.His104Asn	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261740C>A	ExAC,TOPMed,gnomAD
rs752249342	p.Gly107Ala	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261750G>C	ExAC,gnomAD
rs1189656425	p.Asn109Asp	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261755A>G	gnomAD
rs1439294018	p.Arg111Cys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261761C>T	gnomAD
rs1259486563	p.Thr112Ile	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261765C>T	TOPMed
rs755568850	p.Ile113Val	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261767A>G	ExAC,gnomAD
rs1027553263	p.Ile114Val	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261770A>G	TOPMed,gnomAD
rs367676745	p.Asn115Ser	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261774A>G	ESP,ExAC,gnomAD
rs756849803	p.Arg116His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261777G>A	ExAC,gnomAD
rs34096580	p.Tyr119Ter	stop gained	-	CHR_HSCHR15_6_CTG8:g.32261787C>G	ESP,ExAC,TOPMed,gnomAD
rs777005561	p.Pro128Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261813C>G	ExAC,gnomAD
rs762152055	p.Arg129Lys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261816G>A	ExAC,TOPMed
rs765373204	p.His130Leu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261819A>T	ExAC,gnomAD
rs1468958267	p.His130Tyr	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261818C>T	gnomAD
rs145439767	p.Ile131Val	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261821A>G	ESP,ExAC,TOPMed,gnomAD
rs1233026052	p.Ile131Ser	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261822T>G	TOPMed
rs777740546	p.Arg132Gly	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261824C>G	ExAC,gnomAD
rs777740546	p.Arg132Trp	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261824C>T	ExAC,gnomAD
rs766891324	p.Lys133Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261828A>G	ExAC,gnomAD
rs1202298191	p.Glu134Lys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261830G>A	gnomAD
rs1354011335	p.Glu135Lys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261833G>A	TOPMed
rs1457535579	p.Gln139Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261846A>G	TOPMed,gnomAD
rs1382342425	p.Lys145Arg	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261864A>G	gnomAD
rs202104240	p.Thr150Ile	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261879C>T	ESP,ExAC,TOPMed,gnomAD
rs1467505239	p.Val154Ala	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261891T>C	gnomAD
rs199760237	p.Thr155Ala	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261893A>G	ExAC,TOPMed,gnomAD
rs1446800680	p.Pro163Leu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261918C>T	gnomAD
rs1332974507	p.Pro164Ser	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261920C>T	gnomAD
rs1458654619	p.Arg169Thr	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261936G>C	gnomAD
rs1162318366	p.Thr171Ala	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261941A>G	TOPMed,gnomAD
rs748146251	p.Arg172Cys	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261944C>T	ExAC,gnomAD
rs1256642631	p.Arg172His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261945G>A	TOPMed,gnomAD
rs1256642631	p.Arg172Leu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261945G>T	TOPMed,gnomAD
rs1199299875	p.Lys174Glu	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261950A>G	gnomAD
rs763336404	p.Gln175His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261955G>C	ExAC,TOPMed,gnomAD
rs1190459895	p.Arg177His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261960G>A	gnomAD
rs368726521	p.Ile179Thr	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261966T>C	ESP,TOPMed
rs942578260	p.Ile179Val	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261965A>G	TOPMed,gnomAD
rs767985360	p.Asp184Gly	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261981A>G	ExAC,gnomAD
rs760105878	p.Asp184His	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261980G>C	ExAC,gnomAD
rs768242805	p.Arg3Cys	missense variant	-	NC_000015.10:g.32730697C>T	ExAC,gnomAD
rs776296145	p.Thr4Ala	missense variant	-	NC_000015.10:g.32730700A>G	ExAC,gnomAD
rs761624816	p.Thr4Lys	missense variant	-	NC_000015.10:g.32730701C>A	ExAC,gnomAD
rs1200762767	p.Tyr6Cys	missense variant	-	NC_000015.10:g.32730707A>G	TOPMed,gnomAD
rs1280677560	p.Thr7Met	missense variant	-	NC_000015.10:g.32730710C>T	gnomAD
rs1435968313	p.Val8Met	missense variant	-	NC_000015.10:g.32730712G>A	gnomAD
rs1486980296	p.Ala10Thr	missense variant	-	NC_000015.10:g.32730718G>A	gnomAD
rs1191361049	p.Gly16Glu	missense variant	-	NC_000015.10:g.32730737G>A	gnomAD
rs766332214	p.Leu19Arg	missense variant	-	NC_000015.10:g.32730746T>G	ExAC,gnomAD
rs148668967	p.Pro20Gln	missense variant	-	NC_000015.10:g.32730749C>A	ESP,ExAC,gnomAD
rs199894051	p.Lys26Arg	missense variant	-	NC_000015.10:g.32730767A>G	ExAC,TOPMed,gnomAD
rs1241168004	p.Lys26Asn	missense variant	-	NC_000015.10:g.32730768G>T	TOPMed
rs1194984931	p.Lys26Gln	missense variant	-	NC_000015.10:g.32730766A>C	TOPMed
rs752903637	p.Gly28Arg	missense variant	-	NC_000015.10:g.32730772G>A	ExAC,gnomAD
rs1213382228	p.Ser29Tyr	missense variant	-	NC_000015.10:g.32730776C>A	TOPMed
rs1401119450	p.Ala32Val	missense variant	-	NC_000015.10:g.32730785C>T	gnomAD
rs1345683518	p.Ile33Phe	missense variant	-	NC_000015.10:g.32730787A>T	TOPMed
rs756565137	p.Ile33Thr	missense variant	-	NC_000015.10:g.32730788T>C	ExAC,gnomAD
rs779454972	p.Pro35Leu	missense variant	-	NC_000015.10:g.32730794C>T	ExAC,TOPMed,gnomAD
rs111262341	p.Pro35Ala	missense variant	-	NC_000015.10:g.32730793C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779454972	p.Pro35Gln	missense variant	-	NC_000015.10:g.32730794C>A	ExAC,TOPMed,gnomAD
rs768170664	p.Ala39Val	missense variant	-	NC_000015.10:g.32730806C>T	ExAC,gnomAD
rs553840621	p.His41Arg	missense variant	-	NC_000015.10:g.32730812A>G	1000Genomes,ExAC
rs1043315001	p.Asn42Lys	missense variant	-	NC_000015.10:g.32730816T>A	TOPMed
rs945879966	p.Asn42Ser	missense variant	-	NC_000015.10:g.32730815A>G	TOPMed,gnomAD
rs1458721312	p.Asn42Asp	missense variant	-	NC_000015.10:g.32730814A>G	gnomAD
rs769422903	p.Asp43Asn	missense variant	-	NC_000015.10:g.32730817G>A	ExAC,TOPMed,gnomAD
rs1200082572	p.Glu45Gly	missense variant	-	NC_000015.10:g.32730824A>G	gnomAD
rs762082199	p.Gln46Leu	missense variant	-	NC_000015.10:g.32730827A>T	gnomAD
rs762082199	p.Gln46Pro	missense variant	-	NC_000015.10:g.32730827A>C	gnomAD
rs545952537	p.Thr47Ile	missense variant	-	NC_000015.10:g.32730830C>T	1000Genomes,ExAC,gnomAD
rs774292923	p.Gln48His	missense variant	-	NC_000015.10:g.32730834G>T	ExAC,TOPMed,gnomAD
rs770819924	p.Gln48Pro	missense variant	-	NC_000015.10:g.32730833A>C	ExAC,gnomAD
rs770819924	p.Gln48Leu	missense variant	-	NC_000015.10:g.32730833A>T	ExAC,gnomAD
rs200285291	p.Gln52His	missense variant	-	NC_000015.10:g.32730846G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200285291	p.Gln52His	missense variant	-	NC_000015.10:g.32730846G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1454389131	p.Pro53Arg	missense variant	-	NC_000015.10:g.32730848C>G	TOPMed
rs754206331	p.Asn57His	missense variant	-	NC_000015.10:g.32730859A>C	ExAC,gnomAD
rs1278786063	p.Arg58Gln	missense variant	-	NC_000015.10:g.32730863G>A	gnomAD
rs1345351965	p.Arg58Trp	missense variant	-	NC_000015.10:g.32730862C>T	gnomAD
rs1230965844	p.Gly59Arg	missense variant	-	NC_000015.10:g.32730865G>A	gnomAD
rs779317921	p.Gln62Arg	missense variant	-	NC_000015.10:g.32730875A>G	ExAC,TOPMed,gnomAD
rs750874632	p.Arg64Trp	missense variant	-	NC_000015.10:g.32730880C>T	ExAC,gnomAD
rs1484617645	p.Pro69Ser	missense variant	-	NC_000015.10:g.32730895C>T	TOPMed
rs747649135	p.Gly70Arg	missense variant	-	NC_000015.10:g.32730898G>A	ExAC,gnomAD
rs747649135	p.Gly70Arg	missense variant	-	NC_000015.10:g.32730898G>C	ExAC,gnomAD
rs1479073274	p.Glu71Lys	missense variant	-	NC_000015.10:g.32730901G>A	gnomAD
rs777378898	p.Ser76Cys	missense variant	-	NC_000015.10:g.32730917C>G	ExAC,gnomAD
rs1236578712	p.Glu79Asp	missense variant	-	NC_000015.10:g.32730927G>C	TOPMed
rs1312888226	p.Ala80Thr	missense variant	-	NC_000015.10:g.32730928G>A	TOPMed
rs745880464	p.His82Arg	missense variant	-	NC_000015.10:g.32730935A>G	ExAC,TOPMed,gnomAD
rs771903480	p.Thr84Met	missense variant	-	NC_000015.10:g.32730941C>T	ExAC,TOPMed,gnomAD
rs764435884	p.Glu85Gly	missense variant	-	NC_000015.10:g.32730944A>G	ExAC,gnomAD
rs764435884	p.Glu85Val	missense variant	-	NC_000015.10:g.32730944A>T	ExAC,gnomAD
rs776954783	p.Lys87Glu	missense variant	-	NC_000015.10:g.32730949A>G	ExAC,gnomAD
rs1340557778	p.Tyr88His	missense variant	-	NC_000015.10:g.32730952T>C	TOPMed,gnomAD
rs762087325	p.Lys90Thr	missense variant	-	NC_000015.10:g.32730959A>C	ExAC,gnomAD
rs762087325	p.Lys90Arg	missense variant	-	NC_000015.10:g.32730959A>G	ExAC,gnomAD
rs1216397987	p.Arg91Gln	missense variant	-	NC_000015.10:g.32730962G>A	TOPMed,gnomAD
rs1035305843	p.Gln101Ter	stop gained	-	NC_000015.10:g.32730991C>T	TOPMed
rs370674293	p.Ile103Val	missense variant	-	NC_000015.10:g.32730997A>G	ESP,ExAC,TOPMed,gnomAD
rs759010741	p.His104Asn	missense variant	-	NC_000015.10:g.32731000C>A	ExAC,TOPMed,gnomAD
rs752249342	p.Gly107Ala	missense variant	-	NC_000015.10:g.32731010G>C	ExAC,gnomAD
rs1189656425	p.Asn109Asp	missense variant	-	NC_000015.10:g.32731015A>G	gnomAD
rs1439294018	p.Arg111Cys	missense variant	-	NC_000015.10:g.32731021C>T	gnomAD
rs1259486563	p.Thr112Ile	missense variant	-	NC_000015.10:g.32731025C>T	TOPMed
rs755568850	p.Ile113Val	missense variant	-	NC_000015.10:g.32731027A>G	ExAC,gnomAD
rs1027553263	p.Ile114Val	missense variant	-	NC_000015.10:g.32731030A>G	TOPMed,gnomAD
rs367676745	p.Asn115Ser	missense variant	-	NC_000015.10:g.32731034A>G	ESP,ExAC,gnomAD
rs756849803	p.Arg116His	missense variant	-	NC_000015.10:g.32731037G>A	ExAC,gnomAD
rs34096580	p.Tyr119Ter	stop gained	-	NC_000015.10:g.32731047C>G	ESP,ExAC,TOPMed,gnomAD
rs777005561	p.Pro128Arg	missense variant	-	NC_000015.10:g.32731073C>G	ExAC,gnomAD
rs762152055	p.Arg129Lys	missense variant	-	NC_000015.10:g.32731076G>A	ExAC,TOPMed
rs765373204	p.His130Leu	missense variant	-	NC_000015.10:g.32731079A>T	ExAC,gnomAD
rs1468958267	p.His130Tyr	missense variant	-	NC_000015.10:g.32731078C>T	gnomAD
rs1233026052	p.Ile131Ser	missense variant	-	NC_000015.10:g.32731082T>G	TOPMed
rs145439767	p.Ile131Val	missense variant	-	NC_000015.10:g.32731081A>G	ESP,ExAC,TOPMed,gnomAD
rs777740546	p.Arg132Trp	missense variant	-	NC_000015.10:g.32731084C>T	ExAC,gnomAD
rs777740546	p.Arg132Gly	missense variant	-	NC_000015.10:g.32731084C>G	ExAC,gnomAD
rs766891324	p.Lys133Arg	missense variant	-	NC_000015.10:g.32731088A>G	ExAC,gnomAD
rs1202298191	p.Glu134Lys	missense variant	-	NC_000015.10:g.32731090G>A	gnomAD
rs1354011335	p.Glu135Lys	missense variant	-	NC_000015.10:g.32731093G>A	TOPMed
rs1457535579	p.Gln139Arg	missense variant	-	NC_000015.10:g.32731106A>G	TOPMed,gnomAD
rs1382342425	p.Lys145Arg	missense variant	-	NC_000015.10:g.32731124A>G	gnomAD
rs202104240	p.Thr150Ile	missense variant	-	NC_000015.10:g.32731139C>T	ESP,ExAC,TOPMed,gnomAD
rs1467505239	p.Val154Ala	missense variant	-	NC_000015.10:g.32731151T>C	gnomAD
rs199760237	p.Thr155Ala	missense variant	-	NC_000015.10:g.32731153A>G	ExAC,TOPMed,gnomAD
rs1446800680	p.Pro163Leu	missense variant	-	NC_000015.10:g.32731178C>T	gnomAD
rs1332974507	p.Pro164Ser	missense variant	-	NC_000015.10:g.32731180C>T	gnomAD
rs1458654619	p.Arg169Thr	missense variant	-	NC_000015.10:g.32731196G>C	gnomAD
rs1162318366	p.Thr171Ala	missense variant	-	NC_000015.10:g.32731201A>G	TOPMed,gnomAD
rs748146251	p.Arg172Cys	missense variant	-	NC_000015.10:g.32731204C>T	ExAC,gnomAD
rs1256642631	p.Arg172His	missense variant	-	NC_000015.10:g.32731205G>A	TOPMed,gnomAD
rs1256642631	p.Arg172Leu	missense variant	-	NC_000015.10:g.32731205G>T	TOPMed,gnomAD
rs1199299875	p.Lys174Glu	missense variant	-	NC_000015.10:g.32731210A>G	gnomAD
rs763336404	p.Gln175His	missense variant	-	NC_000015.10:g.32731215G>C	ExAC,TOPMed,gnomAD
rs1190459895	p.Arg177His	missense variant	-	NC_000015.10:g.32731220G>A	gnomAD
rs942578260	p.Ile179Val	missense variant	-	NC_000015.10:g.32731225A>G	TOPMed,gnomAD
rs368726521	p.Ile179Thr	missense variant	-	NC_000015.10:g.32731226T>C	ESP,TOPMed
rs760105878	p.Asp184His	missense variant	-	NC_000015.10:g.32731240G>C	ExAC,gnomAD
rs767985360	p.Asp184Gly	missense variant	-	NC_000015.10:g.32731241A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0005944	Metabolic Bone Disorder	group	LHGDN
C0006826	Malignant Neoplasms	group	BEFREE
C0007097	Carcinoma	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007117	Basal cell carcinoma	disease	LHGDN
C0007137	Squamous cell carcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE;CTD_human
C0009404	Colorectal Neoplasms	group	BEFREE;CTD_human
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0011881	Diabetic Nephropathy	disease	BEFREE;LHGDN
C0014175	Endometriosis	disease	BEFREE;LHGDN
C0016059	Fibrosis	phenotype	LHGDN
C0016663	Pathological fracture	phenotype	LHGDN
C0017185	Gastrointestinal Neoplasms	group	GENOMICS_ENGLAND
C0020542	Pulmonary Hypertension	phenotype	LHGDN
C0021841	Intestinal Neoplasms	group	BEFREE
C0024115	Lung diseases	group	LHGDN
C0024299	Lymphoma	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027697	Nephritis	disease	LHGDN
C0029408	Degenerative polyarthritis	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE;CTD_human
C0032584	polyps	phenotype	BEFREE
C0032897	Prader-Willi Syndrome	disease	BEFREE
C0034069	Pulmonary Fibrosis	disease	BEFREE;CTD_human
C0036421	Systemic Scleroderma	disease	BEFREE
C0036572	Seizures	phenotype	BEFREE
C0038356	Stomach Neoplasms	group	CTD_human
C0042580	Vesico-Ureteral Reflux	disease	BEFREE
C0085786	Hamman-Rich syndrome	disease	CTD_human
C0149521	Pancreatitis, Chronic	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0221365	Double ureter	disease	BEFREE
C0239337	Deformity of limb	group	BEFREE
C0267952	Fibrosis of pancreas	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0334108	Multiple polyps	disease	BEFREE
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE
C0345893	Juvenile polyposis syndrome	disease	BEFREE
C0345967	Malignant mesothelioma	disease	BEFREE
C0346627	Intestinal Cancer	group	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0424295	Hyperactive behavior	phenotype	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0948089	Acute Coronary Syndrome	disease	BEFREE
C1260894	Hypertrophic obesity	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1319315	Adenocarcinoma of large intestine	disease	GWASDB
C1458155	Mammary Neoplasms	group	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE;CTD_human;GWASCAT
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1832587	POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	disease	BEFREE;CLINGEN;ORPHANET
C1956346	Coronary Artery Disease	disease	BEFREE
C1968949	Cakut	disease	GENOMICS_ENGLAND
C2677290	COLORECTAL CANCER, SUSCEPTIBILITY TO, 4	phenotype	CLINGEN;ORPHANET
C2677291	COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15	phenotype	CLINGEN;ORPHANET
C2697932	Loeys-Dietz Syndrome	disease	BEFREE
C2713442	Polyposis, Adenomatous Intestinal	disease	CTD_human
C2713443	Familial Intestinal Polyposis	disease	CTD_human
C3160718	PARKINSON DISEASE, LATE-ONSET	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3714756	Intellectual Disability	group	BEFREE
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005125	cytokine activity	IEA
GO:0005515	protein binding	IPI
GO:0016015	morphogen activity	ISS
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	ISS
GO:0036122	BMP binding	IDA
GO:0036122	BMP binding	ISS
GO:0042803	protein homodimerization activity	IPI
GO:0043184	vascular endothelial growth factor receptor 2 binding	ISS
GO:0048018	receptor ligand activity	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000902	cell morphogenesis	IDA
GO:0002042	cell migration involved in sprouting angiogenesis	ISS
GO:0002092	positive regulation of receptor internalization	ISS
GO:0003257	positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0006915	apoptotic process	IEA
GO:0007165	signal transduction	ISS
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IEA
GO:0007267	cell-cell signaling	IEA
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0009954	proximal/distal pattern formation	IEA
GO:0010717	regulation of epithelial to mesenchymal transition	IMP
GO:0030199	collagen fibril organization	IMP
GO:0030308	negative regulation of cell growth	IEA
GO:0030326	embryonic limb morphogenesis	IEA
GO:0030502	negative regulation of bone mineralization	IMP
GO:0030514	negative regulation of BMP signaling pathway	IDA
GO:0030514	negative regulation of BMP signaling pathway	IMP
GO:0032331	negative regulation of chondrocyte differentiation	IMP
GO:0033689	negative regulation of osteoblast proliferation	IMP
GO:0043066	negative regulation of apoptotic process	IMP
GO:0045668	negative regulation of osteoblast differentiation	IMP
GO:0045766	positive regulation of angiogenesis	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0046851	negative regulation of bone remodeling	IMP
GO:0048263	determination of dorsal identity	IMP
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA
GO:0051893	regulation of focal adhesion assembly	IEA
GO:0051973	positive regulation of telomerase activity	IDA
GO:0060173	limb development	IMP
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	IDA
GO:0060676	ureteric bud formation	IEA
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA
GO:0090027	negative regulation of monocyte chemotaxis	ISS
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090291	negative regulation of osteoclast proliferation	IMP
GO:1900086	positive regulation of peptidyl-tyrosine autophosphorylation	ISS
GO:1900155	negative regulation of bone trabecula formation	IMP
GO:1900158	negative regulation of bone mineralization involved in bone maturation	IMP
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA
GO:2000273	positive regulation of signaling receptor activity	ISS
GO:2000727	positive regulation of cardiac muscle cell differentiation	ISS
GO:0032872	regulation of stress-activated MAPK cascade	ISS
GO:0072331	signal transduction by p53 class mediator	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	NAS
GO:0009986	cell surface	IEA
GO:0062023	collagen-containing extracellular matrix	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of GREM1 mRNA	29038090
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in decreased expression of GREM1 mRNA	28628672
C032668	1-nitropyrene	1-nitropyrene results in increased expression of GREM1 mRNA	19041380
C581572	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea inhibits the reaction [Carbon Tetrachloride results in decreased expression of GREM1 mRNA]	25827057
C581572	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea results in decreased expression of GREM1 mRNA	25827057
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of GREM1 mRNA	19933214
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of GREM1 mRNA	30202865
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Asbestos, Crocidolite results in increased expression of GREM1 mRNA]	17975199
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [FSHB protein affects the expression of GREM1 mRNA]	19414516
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of GREM1 mRNA	19114083
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 GREM1 mRNA]	29704546
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of GREM1 mRNA	18648102
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of GREM1 mRNA	25912373
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 [Asbestos, Crocidolite results in increased expression of GREM1 mRNA]	17975199
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 [TGFB1 protein results in increased expression of GREM1 mRNA]	17975199
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 results in decreased expression of GREM1 mRNA	17975199
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat 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 GREM1 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 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 GREM1 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 methylmercuric chloride 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 GREM1 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 GREM1 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 p-Chloromercuribenzoic 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 GREM1 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 GREM1 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 trichostatin A 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 GREM1 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 GREM1 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 Vorinostat 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 GREM1 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in decreased expression of GREM1 mRNA	26690555
D020106	Acrylamide	Acrylamide results in decreased expression of GREM1 mRNA	28959563
D016607	Aflatoxin M1	Aflatoxin M1 results in decreased expression of GREM1 mRNA	30928695
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of GREM1 mRNA	16483693
C000228	aristolochic acid I	aristolochic acid I results in increased expression of GREM1 mRNA	22525892
C000228	aristolochic acid I	aristolochic acid I results in increased expression of GREM1 protein	22525892
C000228	aristolochic acid I	GREM1 mutant form inhibits the reaction [aristolochic acid I results in decreased activity of BMP7 protein]	22525892
C000228	aristolochic acid I	GREM1 mutant form inhibits the reaction [aristolochic acid I results in decreased expression of CDH1 protein]	22525892
C000228	aristolochic acid I	GREM1 mutant form inhibits the reaction [aristolochic acid I results in decreased expression of SMAD1 protein modified form]	22525892
C000228	aristolochic acid I	GREM1 mutant form inhibits the reaction [aristolochic acid I results in decreased expression of SMAD5 protein modified form]	22525892
C000228	aristolochic acid I	GREM1 mutant form inhibits the reaction [aristolochic acid I results in decreased expression of SMAD9 protein modified form]	22525892
C000228	aristolochic acid I	GREM1 mutant form inhibits the reaction [aristolochic acid I results in increased expression of ACTA2 protein]	22525892
C000228	aristolochic acid I	GREM1 protein inhibits the reaction [BMP7 protein results in decreased susceptibility to aristolochic acid I]	22525892
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of GREM1 mRNA	19128835
C015001	arsenite	arsenite results in increased methylation of GREM1 promoter	23974009
D017638	Asbestos, Crocidolite	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Asbestos, Crocidolite results in increased expression of GREM1 mRNA]	17975199
D017638	Asbestos, Crocidolite	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [Asbestos, Crocidolite results in increased expression of GREM1 mRNA]	17975199
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of GREM1 mRNA	17975199; 18687144; 25757056;
D017638	Asbestos, Crocidolite	U 0126 inhibits the reaction [Asbestos, Crocidolite results in increased expression of GREM1 mRNA]	17975199
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the localization of GREM1 protein	17975199
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of GREM1 mRNA	17975199
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of GREM1 protein	17975199
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of GREM1 mRNA	29523930
C487081	belinostat	belinostat results in increased expression of GREM1 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat 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 GREM1 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GREM1 mRNA	22178795
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GREM1 mRNA	21839799
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of GREM1 mRNA	25912373
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of GREM1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of GREM1 mRNA	25912373
C006780	bisphenol A	bisphenol A results in decreased methylation of GREM1 promoter	27312807
C006780	bisphenol A	bisphenol A results in decreased expression of GREM1 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in increased expression of GREM1 mRNA	26079696
D002117	Calcitriol	Calcitriol results in decreased expression of GREM1 mRNA	16002434; 26485663;
D002251	Carbon Tetrachloride	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea inhibits the reaction [Carbon Tetrachloride results in decreased expression of GREM1 mRNA]	25827057
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of GREM1 mRNA	25827057
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of GREM1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of GREM1 mRNA	27392435
D003300	Copper	Copper deficiency results in increased expression of GREM1 mRNA	26033743
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of GREM1 mRNA	19549813
D003345	Corticosterone	Corticosterone results in decreased expression of GREM1 mRNA	15755911
D003471	Cuprizone	Cuprizone results in decreased expression of GREM1 mRNA	26577399
D003474	Curcumin	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of GREM1 mRNA]	18200517
D000077209	Decitabine	Decitabine results in increased expression of GREM1 mRNA	16367923
D003907	Dexamethasone	Dexamethasone inhibits the reaction [BMP2 protein results in increased expression of GREM1 mRNA]	15268896
D003907	Dexamethasone	Dexamethasone inhibits the reaction [BMP4 protein results in increased expression of GREM1 mRNA]	15268896
D003907	Dexamethasone	Dexamethasone inhibits the reaction [BMP6 protein results in increased expression of GREM1 mRNA]	15268896
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in decreased expression of GREM1 mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in decreased expression of GREM1 mRNA	22733784
D004041	Dietary Fats	Dietary Fats results in decreased expression of GREM1 mRNA	25016146
D004137	Dinitrochlorobenzene	Dinitrochlorobenzene results in increased expression of GREM1 mRNA	20146380
C516138	dorsomorphin	[NOG protein co-treated with belinostat 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 GREM1 mRNA	27188386
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 GREM1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride 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 GREM1 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 GREM1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic 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 GREM1 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 GREM1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A 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 GREM1 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 GREM1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat 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 GREM1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of GREM1 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of GREM1 mRNA	26272509
D004958	Estradiol	Estradiol affects the expression of GREM1 mRNA	22574217
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of GREM1 mRNA	30165855
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of GREM1 mRNA	17404688
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
C069837	fullerene C60	fullerene C60 results in decreased expression of GREM1 mRNA	19167457
C039281	furan	furan results in increased expression of GREM1 mRNA	27387713
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D005944	Glucosamine	Glucosamine inhibits the reaction [IL1B results in increased expression of GREM1 mRNA]	17109745
D005944	Glucosamine	Glucosamine results in decreased expression of GREM1 mRNA	17109745
D005944	Glucosamine	IL1B inhibits the reaction [Glucosamine results in decreased expression of GREM1 mRNA]	17109745
D005947	Glucose	Glucose results in increased expression of GREM1 mRNA	10026205; 10744662;
C545476	incobotulinumtoxinA	incobotulinumtoxinA affects the expression of GREM1 mRNA	29522793
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in decreased expression of GREM1 mRNA	28628672
D000077146	Irinotecan	Irinotecan results in increased expression of GREM1 mRNA	20097248
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of GREM1 mRNA	27392435
C098607	JP8 aviation fuel	JP8 aviation fuel results in increased expression of GREM1 protein	17337753
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of GREM1 mRNA	25307878
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of GREM1 mRNA	26644586
C008261	lead acetate	lead acetate results in increased expression of GREM1 mRNA	27562236
D015122	Mercaptopurine	Mercaptopurine results in increased expression of GREM1 mRNA	23358152
C042720	mercuric bromide	mercuric bromide results in increased expression of GREM1 mRNA	26272509
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 GREM1 mRNA	27188386
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of GREM1 mRNA	23103053
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of GREM1 mRNA	23179753; 26272509; 28001369;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride 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 GREM1 mRNA	27188386
D009532	Nickel	Nickel results in increased expression of GREM1 mRNA	24768652; 25583101;
C028007	nickel monoxide	nickel monoxide affects the expression of GREM1 mRNA	19167457
C029938	nickel sulfate	nickel sulfate results in decreased expression of GREM1 mRNA	22714537
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in increased expression of GREM1 mRNA	17616710
C570897	NSC668394	NSC668394 results in increased expression of GREM1 mRNA	27137931
C016340	o,p'-DDT	o,p'-DDT results in increased expression of GREM1 mRNA	18204070
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of GREM1 mRNA	25729387
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 GREM1 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of GREM1 mRNA	26272509
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D052638	Particulate Matter	Particulate Matter results in increased expression of GREM1 mRNA	22178795; 29703138;
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic 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 GREM1 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in increased expression of GREM1 mRNA	26272509
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of GREM1 mRNA	26705709
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 GREM1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of GREM1 mRNA	26272509
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GREM1 mRNA	29432896
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of GREM1 mRNA	17404688
D011374	Progesterone	Progesterone results in decreased expression of GREM1 mRNA	17404688; 20864642;
D011374	Progesterone	Progesterone results in decreased expression of GREM1 mRNA	20726854
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of GREM1 mRNA	24780913; 25825206;
C010313	pseudocumene	pseudocumene results in increased expression of GREM1 protein	17337753
C043680	ptaquiloside	ptaquiloside results in decreased expression of GREM1 mRNA	23274088
C541923	sandostatinLAR	sandostatinLAR results in increased expression of GREM1 mRNA	17210224
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of GREM1 mRNA	23806026; 25895662;
D012822	Silicon Dioxide	GREM1 protein inhibits the reaction [Silicon Dioxide results in increased expression of COL1A1 mRNA]	27428020
D012822	Silicon Dioxide	GREM1 protein inhibits the reaction [Silicon Dioxide results in increased expression of CXCL10 protein]	27428020
D012822	Silicon Dioxide	GREM1 protein inhibits the reaction [Silicon Dioxide results in increased expression of TNC mRNA]	27428020
D012906	Smoke	Smoke results in increased expression of GREM1 mRNA	21095227
C017947	sodium arsenite	sodium arsenite affects the methylation of GREM1 gene	28589171
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of GREM1 mRNA	27862939
D013311	Streptozocin	Streptozocin results in increased expression of GREM1 mRNA	10744662
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of GREM1 mRNA	31299295
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of GREM1 mRNA	15336504
C004648	testosterone enanthate	testosterone enanthate affects the expression of GREM1 mRNA	17440010
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of GREM1 mRNA	28300664
D013749	Tetrachlorodibenzodioxin	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of GREM1 mRNA]	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GREM1 mRNA	27913140
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GREM1 mRNA	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GREM1 mRNA	20067830
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GREM1 mRNA	18691609; 19933214;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of GREM1 protein	30291989
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of GREM1 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of GREM1 mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A 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 GREM1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of GREM1 mRNA	24935251; 26272509;
D014302	Trinitrobenzenesulfonic Acid	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of GREM1 mRNA]	18200517
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of GREM1 mRNA	18200517
C113580	U 0126	U 0126 inhibits the reaction [Asbestos, Crocidolite results in increased expression of GREM1 mRNA]	17975199
C022884	undecane	undecane results in increased expression of GREM1 protein	17337753
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 GREM1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of GREM1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of GREM1 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of GREM1 mRNA	23179753; 24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid affects the expression of GREM1 mRNA	17292431
D014635	Valproic Acid	Valproic Acid results in decreased expression of GREM1 mRNA	23665938
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of GREM1 gene	25560391
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat 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 GREM1 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of GREM1 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0202	Cytokine
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR006207	Cys_knot_C
IPR029034	Cystine-knot_cytokine
IPR004133	DAN
IPR017159	Gremlin-1/2

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03045	DAN

Gene: GREM1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction