CleftGeneDB-Search

Gene: BMP7

Basic information

Tag	Content
Uniprot ID	P18075; Q9H512; Q9NTQ7;
Entrez ID	655
Genbank protein ID	CAA36100.1; AAH08584.1; AAA36738.1;
Genbank nucleotide ID	NM_001719.2
Ensembl protein ID	ENSP00000379204
Ensembl nucleotide ID	ENSG00000101144
Gene name	Bone morphogenetic protein 7
Gene symbol	BMP7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis. Promotes brown adipocyte differentiation by P38 MAPK pathway-mediated activation of target genes, including members of the SOX family of transcription factors (PubMed:27923061).
Sequence	MHVRSLRAAA PHSFVALWAP LFLLRSALAD FSLDNEVHSS FIHRRLRSQE RREMQREILS 60 ILGLPHRPRP HLQGKHNSAP MFMLDLYNAM AVEEGGGPGG QGFSYPYKAV FSTQGPPLAS 120 LQDSHFLTDA DMVMSFVNLV EHDKEFFHPR YHHREFRFDL SKIPEGEAVT AAEFRIYKDY 180 IRERFDNETF RISVYQVLQE HLGRESDLFL LDSRTLWASE EGWLVFDITA TSNHWVVNPR 240 HNLGLQLSVE TLDGQSINPK LAGLIGRHGP QNKQPFMVAF FKATEVHFRS IRSTGSKQRS 300 QNRSKTPKNQ EALRMANVAE NSSSDQRQAC KKHELYVSFR DLGWQDWIIA PEGYAAYYCE 360 GECAFPLNSY MNATNHAIVQ TLVHFINPET VPKPCCAPTQ LNAISVLYFD DSSNVILKKY 420 RNMVVRACGC H 431

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1BMP
1LX5
1LXI
1M4U
1BMP
1LXI

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	BMP7	540595	F1MLT0		Bos taurus	Prediction	More>>
1:1 ortholog	BMP7	102177903	A0A452E223		Capra hircus	Prediction	More>>
1:1 ortholog	BMP7	100050299	E0A9E2		Equus caballus	Prediction	More>>
1:1 ortholog	BMP7	655	P18075		Homo sapiens	Prediction	More>>
1:1 ortholog	Bmp7	12162	P23359	CPO	Mus musculus	Publication	More>>
1:1 ortholog	BMP7	458357	H2QKM7		Pan troglodytes	Prediction	More>>
1:1 ortholog	BMP7	492315	A5GFN2		Sus scrofa	Prediction	More>>
1:1 ortholog	Bmp7	85272	G3V6W8		Rattus norvegicus	Prediction	More>>
1:1 ortholog	bmp7b	557567	F1QD07		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1431628195	p.His2Arg	missense variant	-	NC_000020.11:g.57266118T>C	gnomAD
rs571689544	p.Val3Leu	missense variant	-	NC_000020.11:g.57266116C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs571689544	p.Val3Met	missense variant	-	NC_000020.11:g.57266116C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1470883408	p.Arg4Cys	missense variant	-	NC_000020.11:g.57266113G>A	gnomAD
rs957467613	p.Ser5Leu	missense variant	-	NC_000020.11:g.57266109G>A	TOPMed
rs1233180568	p.Arg7Pro	missense variant	-	NC_000020.11:g.57266103C>G	TOPMed
rs1175392200	p.Pro11Leu	missense variant	-	NC_000020.11:g.57266091G>A	gnomAD
rs1479264541	p.Ser13Asn	missense variant	-	NC_000020.11:g.57266085C>T	gnomAD
rs1421269403	p.Val15Ala	missense variant	-	NC_000020.11:g.57266079A>G	gnomAD
NCI-TCGA novel	p.Ala16Glu	missense variant	-	NC_000020.11:g.57266076G>T	NCI-TCGA
rs1482615161	p.Leu17Phe	missense variant	-	NC_000020.11:g.57266074G>A	TOPMed
rs1245387656	p.Pro20Leu	missense variant	-	NC_000020.11:g.57266064G>A	gnomAD
rs865925053	p.Leu21Met	missense variant	-	NC_000020.11:g.57266062G>T	TOPMed,gnomAD
rs980184645	p.Phe22Leu	missense variant	-	NC_000020.11:g.57266057G>C	TOPMed,gnomAD
rs980184645	p.Phe22Leu	missense variant	-	NC_000020.11:g.57266057G>T	TOPMed,gnomAD
rs1264171723	p.Arg25Cys	missense variant	-	NC_000020.11:g.57266050G>A	gnomAD
rs1310779443	p.Ala27Val	missense variant	-	NC_000020.11:g.57266043G>A	gnomAD
rs1454540999	p.Phe31Leu	missense variant	-	NC_000020.11:g.57266032A>G	gnomAD
rs1454540999	p.Phe31Ile	missense variant	-	NC_000020.11:g.57266032A>T	gnomAD
rs763868573	p.Asp34Glu	missense variant	-	NC_000020.11:g.57266021G>T	ExAC,TOPMed,gnomAD
rs760656364	p.Glu36Lys	missense variant	-	NC_000020.11:g.57266017C>T	ExAC,TOPMed,gnomAD
rs1306606385	p.Glu36Gly	missense variant	-	NC_000020.11:g.57266016T>C	TOPMed
rs1357578756	p.Val37Leu	missense variant	-	NC_000020.11:g.57266014C>A	TOPMed
rs774351201	p.Ser39Leu	missense variant	-	NC_000020.11:g.57266007G>A	ExAC,gnomAD
rs1444696170	p.Ser40Asn	missense variant	-	NC_000020.11:g.57266004C>T	gnomAD
rs1459467818	p.Ser40Arg	missense variant	-	NC_000020.11:g.57266003G>C	TOPMed,gnomAD
rs1244342418	p.His43Arg	missense variant	-	NC_000020.11:g.57265995T>C	gnomAD
rs1203582968	p.Arg44Pro	missense variant	-	NC_000020.11:g.57265992C>G	gnomAD
rs1203582968	p.Arg44Gln	missense variant	-	NC_000020.11:g.57265992C>T	gnomAD
rs1482514391	p.Arg45Ser	missense variant	-	NC_000020.11:g.57265990G>T	TOPMed,gnomAD
COSM1412664	p.Arg45His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265989C>T	NCI-TCGA Cosmic
rs868147897	p.Leu46Phe	missense variant	-	NC_000020.11:g.57265987G>A	TOPMed
rs1205496696	p.Arg47Cys	missense variant	-	NC_000020.11:g.57265984G>A	gnomAD
rs1307094650	p.Arg47His	missense variant	-	NC_000020.11:g.57265983C>T	TOPMed,gnomAD
rs1164385783	p.Arg52Pro	missense variant	-	NC_000020.11:g.57265968C>G	TOPMed,gnomAD
RCV000624724	p.Glu53Lys	missense variant	Inborn genetic diseases	NC_000020.11:g.57265966C>T	ClinVar
rs1186663823	p.Glu53Gln	missense variant	-	NC_000020.11:g.57265966C>G	TOPMed
rs1186663823	p.Glu53Lys	missense variant	-	NC_000020.11:g.57265966C>T	TOPMed
rs888626278	p.Met54Leu	missense variant	-	NC_000020.11:g.57265963T>A	TOPMed,gnomAD
rs1298463835	p.Ile58Met	missense variant	-	NC_000020.11:g.57265949G>C	gnomAD
rs747542314	p.Arg69Leu	missense variant	-	NC_000020.11:g.57265917C>A	ExAC,gnomAD
rs867354171	p.Pro70Gln	missense variant	-	NC_000020.11:g.57265914G>T	TOPMed
rs867354171	p.Pro70Arg	missense variant	-	NC_000020.11:g.57265914G>C	TOPMed
rs1225000220	p.Gln73His	missense variant	-	NC_000020.11:g.57265904C>G	gnomAD
rs1298476061	p.Gly74Asp	missense variant	-	NC_000020.11:g.57265902C>T	TOPMed
rs771580937	p.His76Gln	missense variant	-	NC_000020.11:g.57265895G>C	ExAC,gnomAD
rs931743425	p.Asn77Ile	missense variant	-	NC_000020.11:g.57265893T>A	TOPMed,gnomAD
rs745548111	p.Asn77Asp	missense variant	-	NC_000020.11:g.57265894T>C	ExAC,gnomAD
rs1307594265	p.Ser78Thr	missense variant	-	NC_000020.11:g.57265891A>T	gnomAD
rs900152094	p.Ser78Leu	missense variant	-	NC_000020.11:g.57265890G>A	TOPMed
rs753750823	p.Ala79Ser	missense variant	-	NC_000020.11:g.57265888C>A	ExAC,gnomAD
rs1304647580	p.Met81Ile	missense variant	-	NC_000020.11:g.57265880C>T	gnomAD
rs1405117633	p.Met83Thr	missense variant	-	NC_000020.11:g.57265875A>G	gnomAD
rs1276059448	p.Leu84Met	missense variant	-	NC_000020.11:g.57265873G>T	TOPMed
rs1276059448	p.Leu84Val	missense variant	-	NC_000020.11:g.57265873G>C	TOPMed
rs777610187	p.Asp85Glu	missense variant	-	NC_000020.11:g.57265868G>T	ExAC,TOPMed,gnomAD
rs766396823	p.Asn88Ser	missense variant	-	NC_000020.11:g.57265860T>C	ExAC,gnomAD
rs1246899956	p.Asn88His	missense variant	-	NC_000020.11:g.57265861T>G	TOPMed
rs766396823	p.Asn88Thr	missense variant	-	NC_000020.11:g.57265860T>G	ExAC,gnomAD
COSM1028340	p.Ala89Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265858C>T	NCI-TCGA Cosmic
rs376083170	p.Met90Ile	missense variant	-	NC_000020.11:g.57265853C>T	ESP,ExAC,TOPMed,gnomAD
rs1212048440	p.Met90Val	missense variant	-	NC_000020.11:g.57265855T>C	gnomAD
rs765378952	p.Glu93Lys	missense variant	-	NC_000020.11:g.57265846C>T	ExAC,gnomAD
rs776921476	p.Glu94Lys	missense variant	-	NC_000020.11:g.57265843C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly95Asp	missense variant	-	NC_000020.11:g.57265839C>T	NCI-TCGA
rs1261312167	p.Gly96Ser	missense variant	-	NC_000020.11:g.57265837C>T	TOPMed,gnomAD
rs1423290459	p.Gly97Arg	missense variant	-	NC_000020.11:g.57265834C>T	TOPMed
rs1290656042	p.Gly97Glu	missense variant	-	NC_000020.11:g.57265833C>T	gnomAD
rs1326833140	p.Pro98Ser	missense variant	-	NC_000020.11:g.57265831G>A	gnomAD
rs1284888052	p.Gly99Ser	missense variant	-	NC_000020.11:g.57265828C>T	gnomAD
rs1327824248	p.Gly100Ser	missense variant	-	NC_000020.11:g.57265825C>T	TOPMed
rs1344425017	p.Gly100Val	missense variant	-	NC_000020.11:g.57265824C>A	gnomAD
rs771732616	p.Gln101Leu	missense variant	-	NC_000020.11:g.57265821T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly102Asp	missense variant	-	NC_000020.11:g.57265818C>T	NCI-TCGA
rs778560295	p.Pro106Ser	missense variant	-	NC_000020.11:g.57265807G>A	ExAC,TOPMed,gnomAD
rs770763971	p.Ala109Thr	missense variant	-	NC_000020.11:g.57265798C>T	ExAC,TOPMed,gnomAD
rs1178979703	p.Val110Ile	missense variant	-	NC_000020.11:g.57265795C>T	gnomAD
rs1377326769	p.Phe111Ser	missense variant	-	NC_000020.11:g.57265791A>G	gnomAD
rs748948590	p.Phe111Leu	missense variant	-	NC_000020.11:g.57265792A>G	ExAC,gnomAD
RCV000416599	p.Ser112Gly	missense variant	Congenital anomalies of kidney and urinary tract (CAKUT)	NC_000020.11:g.57265789T>C	ClinVar
rs755895161	p.Ser112Gly	missense variant	-	NC_000020.11:g.57265789T>C	ExAC,gnomAD
COSM4915207	p.Ser112Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265789T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr113His	insertion	-	NC_000020.11:g.57265781_57265782insTGG	NCI-TCGA
rs1262451970	p.Thr113Ile	missense variant	-	NC_000020.11:g.57265785G>A	gnomAD
rs1272904190	p.Gln114His	missense variant	-	NC_000020.11:g.57265781C>G	TOPMed
COSM4099700	p.Gly115Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265779C>T	NCI-TCGA Cosmic
rs976788767	p.Pro116Ser	missense variant	-	NC_000020.11:g.57265777G>A	TOPMed,gnomAD
rs1204114014	p.Pro117Leu	missense variant	-	NC_000020.11:g.57265773G>A	TOPMed,gnomAD
COSM5967908	p.Pro117His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265773G>T	NCI-TCGA Cosmic
COSM4665848	p.Leu118SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.57265772_57265773insG	NCI-TCGA Cosmic
rs1272784606	p.Ala119Thr	missense variant	-	NC_000020.11:g.57265768C>T	gnomAD
rs1326516569	p.Ser120Arg	missense variant	-	NC_000020.11:g.57265763G>T	gnomAD
rs1229141775	p.Ser120Asn	missense variant	-	NC_000020.11:g.57265764C>T	gnomAD
rs1294149602	p.Gln122Ter	stop gained	-	NC_000020.11:g.57265759G>A	gnomAD
rs781124338	p.Asp123His	missense variant	-	NC_000020.11:g.57265756C>G	ExAC,gnomAD
rs758480033	p.Asp123Gly	missense variant	-	NC_000020.11:g.57265755T>C	ExAC,gnomAD
COSM1028339	p.Ser124Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265751G>T	NCI-TCGA Cosmic
rs1401933926	p.Leu127Phe	missense variant	-	NC_000020.11:g.57265744G>A	gnomAD
rs1396100971	p.Thr128Ile	missense variant	-	NC_000020.11:g.57265740G>A	gnomAD
rs767991677	p.Asp129Asn	missense variant	-	NC_000020.11:g.57265738C>T	gnomAD
rs767991677	p.Asp129Tyr	missense variant	-	NC_000020.11:g.57265738C>A	gnomAD
rs370363790	p.Ala130Thr	missense variant	-	NC_000020.11:g.57265735C>T	ESP,ExAC,TOPMed,gnomAD
rs1187951027	p.Ala130Gly	missense variant	-	NC_000020.11:g.57265734G>C	gnomAD
NCI-TCGA novel	p.Asp131Asn	missense variant	-	NC_000020.11:g.57265732C>T	NCI-TCGA
rs765291185	p.Met132Thr	missense variant	-	NC_000020.11:g.57265728A>G	ExAC,gnomAD
rs377359930	p.Met134Val	missense variant	-	NC_000020.11:g.57265723T>C	ESP,ExAC,TOPMed,gnomAD
COSM4099699	p.Phe136Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265716A>G	NCI-TCGA Cosmic
rs144422198	p.Asn138Ser	missense variant	-	NC_000020.11:g.57265710T>C	1000Genomes,TOPMed,gnomAD
rs1339607526	p.Val140Met	missense variant	-	NC_000020.11:g.57265705C>T	gnomAD
NCI-TCGA novel	p.Glu141Gln	missense variant	-	NC_000020.11:g.57228419C>G	NCI-TCGA
rs760160207	p.Lys144Arg	missense variant	-	NC_000020.11:g.57228409T>C	ExAC
rs373650740	p.Phe147Leu	missense variant	-	NC_000020.11:g.57228399G>T	ESP,ExAC,TOPMed,gnomAD
rs552372771	p.His148Tyr	missense variant	-	NC_000020.11:g.57228398G>A	1000Genomes,ExAC,gnomAD
rs1404713873	p.His148Arg	missense variant	-	NC_000020.11:g.57228397T>C	gnomAD
NCI-TCGA novel	p.Pro149Ala	missense variant	-	NC_000020.11:g.57228395G>C	NCI-TCGA
rs974761741	p.Pro149Gln	missense variant	-	NC_000020.11:g.57228394G>T	gnomAD
rs762464557	p.Pro149Thr	missense variant	-	NC_000020.11:g.57228395G>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg150Leu	missense variant	-	NC_000020.11:g.57228391C>A	NCI-TCGA
rs201575559	p.Arg150His	missense variant	-	NC_000020.11:g.57228391C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772742257	p.Arg150Cys	missense variant	-	NC_000020.11:g.57228392G>A	ExAC,TOPMed,gnomAD
rs1490728166	p.Tyr151Cys	missense variant	-	NC_000020.11:g.57228388T>C	gnomAD
rs149836190	p.His152Gln	missense variant	-	NC_000020.11:g.57228384G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000624212	p.His153Ter	frameshift	Inborn genetic diseases	NC_000020.11:g.57228384del	ClinVar
rs1449347459	p.His153Arg	missense variant	-	NC_000020.11:g.57228382T>C	gnomAD
rs1220253590	p.His153Asn	missense variant	-	NC_000020.11:g.57228383G>T	gnomAD
rs535214572	p.Arg154Gln	missense variant	-	NC_000020.11:g.57228379C>T	ExAC,TOPMed,gnomAD
rs1261883272	p.Arg154Ter	stop gained	-	NC_000020.11:g.57228380G>A	TOPMed
rs1007847615	p.Arg157Trp	missense variant	-	NC_000020.11:g.57228371G>A	TOPMed,gnomAD
rs761758732	p.Arg157Gln	missense variant	-	NC_000020.11:g.57228370C>T	ExAC,TOPMed,gnomAD
COSM4406192	p.Phe158Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228367A>C	NCI-TCGA Cosmic
rs202227032	p.Leu160Val	missense variant	-	NC_000020.11:g.57228362G>C	ESP,ExAC,TOPMed,gnomAD
rs202227032	p.Leu160Phe	missense variant	-	NC_000020.11:g.57228362G>A	ESP,ExAC,TOPMed,gnomAD
rs1294314636	p.Glu165Gly	missense variant	-	NC_000020.11:g.57228346T>C	gnomAD
rs1435896789	p.Gly166Arg	missense variant	-	NC_000020.11:g.57228344C>T	TOPMed,gnomAD
rs1348191815	p.Ala168Val	missense variant	-	NC_000020.11:g.57228337G>A	gnomAD
rs371762840	p.Thr170Met	missense variant	-	NC_000020.11:g.57228331G>A	ESP,ExAC,TOPMed,gnomAD
rs1410998929	p.Ala171Val	missense variant	-	NC_000020.11:g.57228328G>A	gnomAD
COSM3548081	p.Ala171Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228329C>T	NCI-TCGA Cosmic
rs1481285028	p.Ala172Gly	missense variant	-	NC_000020.11:g.57228325G>C	gnomAD
COSM191994	p.Glu173Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228323C>T	NCI-TCGA Cosmic
rs1476787716	p.Arg175Trp	missense variant	-	NC_000020.11:g.57228317G>A	TOPMed,gnomAD
rs755341380	p.Arg175Gln	missense variant	-	NC_000020.11:g.57228316C>T	ExAC,TOPMed,gnomAD
rs927802614	p.Ile176Thr	missense variant	-	NC_000020.11:g.57228313A>G	TOPMed,gnomAD
rs927802614	p.Ile176Asn	missense variant	-	NC_000020.11:g.57228313A>T	TOPMed,gnomAD
rs1369327109	p.Tyr177Phe	missense variant	-	NC_000020.11:g.57228310T>A	gnomAD
rs752122835	p.Lys178Asn	missense variant	-	NC_000020.11:g.57228306C>G	ExAC,gnomAD
rs766922827	p.Tyr180Asp	missense variant	-	NC_000020.11:g.57228302A>C	ExAC,gnomAD
rs750009722	p.Ile181Val	missense variant	-	NC_000020.11:g.57228299T>C	ExAC,TOPMed,gnomAD
rs764633584	p.Arg182Trp	missense variant	-	NC_000020.11:g.57228296G>A	ExAC,TOPMed,gnomAD
rs1365588928	p.Arg182Gln	missense variant	-	NC_000020.11:g.57228295C>T	gnomAD
rs776230892	p.Arg184Gly	missense variant	-	NC_000020.11:g.57228290G>C	ExAC,TOPMed,gnomAD
rs973362334	p.Arg184His	missense variant	-	NC_000020.11:g.57228289C>T	TOPMed
rs776230892	p.Arg184Cys	missense variant	-	NC_000020.11:g.57228290G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe185Val	missense variant	-	NC_000020.11:g.57228287A>C	NCI-TCGA
rs768463621	p.Phe185Leu	missense variant	-	NC_000020.11:g.57228285G>C	ExAC,TOPMed,gnomAD
rs149261355	p.Asp186Asn	missense variant	-	NC_000020.11:g.57228284C>T	ESP
rs1387884559	p.Asn187Ser	missense variant	-	NC_000020.11:g.57228280T>C	gnomAD
rs1318429345	p.Glu188Lys	missense variant	-	NC_000020.11:g.57228278C>T	gnomAD
rs760406190	p.Thr189Met	missense variant	-	NC_000020.11:g.57228274G>A	ExAC,TOPMed,gnomAD
rs140127181	p.Arg191Gln	missense variant	-	NC_000020.11:g.57228268C>T	1000Genomes,ExAC,gnomAD
rs1017902590	p.Arg191Trp	missense variant	-	NC_000020.11:g.57228269G>A	TOPMed
rs1421057827	p.Ile192Leu	missense variant	-	NC_000020.11:g.57228266T>G	gnomAD
NCI-TCGA novel	p.Ser193Asn	missense variant	-	NC_000020.11:g.57228262C>T	NCI-TCGA
rs199551942	p.Val194Ile	missense variant	-	NC_000020.11:g.57228260C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM578072	p.Val194Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228260C>A	NCI-TCGA Cosmic
COSM6093846	p.Tyr195Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228256T>C	NCI-TCGA Cosmic
rs769721400	p.Gln196Glu	missense variant	-	NC_000020.11:g.57228254G>C	ExAC,gnomAD
rs748400220	p.Val197Met	missense variant	-	NC_000020.11:g.57228251C>T	ExAC,gnomAD
rs376798352	p.Leu198Pro	missense variant	-	NC_000020.11:g.57228247A>G	ESP,ExAC,TOPMed,gnomAD
rs781505768	p.Leu198Phe	missense variant	-	NC_000020.11:g.57228248G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu200Lys	missense variant	-	NC_000020.11:g.57228242C>T	NCI-TCGA
rs973527744	p.His201Tyr	missense variant	-	NC_000020.11:g.57228239G>A	gnomAD
rs1229287235	p.Gly203Val	missense variant	-	NC_000020.11:g.57228232C>A	gnomAD
rs142693632	p.Arg204Ser	missense variant	-	NC_000020.11:g.57202623C>G	ESP,ExAC,TOPMed,gnomAD
rs1230022035	p.Glu205Lys	missense variant	-	NC_000020.11:g.57202622C>T	gnomAD
rs138140607	p.Ser206Leu	missense variant	-	NC_000020.11:g.57202618G>A	ESP,ExAC,TOPMed,gnomAD
rs905272153	p.Asp207Glu	missense variant	-	NC_000020.11:g.57202614A>C	TOPMed
rs1000981409	p.Asp207Val	missense variant	-	NC_000020.11:g.57202615T>A	TOPMed
rs757821410	p.Leu210Gln	missense variant	-	NC_000020.11:g.57202606A>T	ExAC,gnomAD
rs752403942	p.Asp212Tyr	missense variant	-	NC_000020.11:g.57202601C>A	ExAC,TOPMed,gnomAD
rs752403942	p.Asp212Asn	missense variant	-	NC_000020.11:g.57202601C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg214ValPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.57202595G>-	NCI-TCGA
rs767011450	p.Arg214Cys	missense variant	-	NC_000020.11:g.57202595G>A	ExAC,TOPMed,gnomAD
rs370126479	p.Arg214His	missense variant	-	NC_000020.11:g.57202594C>T	ESP,ExAC,TOPMed,gnomAD
rs751368146	p.Thr215Ile	missense variant	-	NC_000020.11:g.57202591G>A	ExAC,TOPMed,gnomAD
rs1390807710	p.Leu216Phe	missense variant	-	NC_000020.11:g.57202589G>A	TOPMed,gnomAD
rs1447542011	p.Trp217Ter	stop gained	-	NC_000020.11:g.57202585C>T	gnomAD
rs535901102	p.Ala218Val	missense variant	-	NC_000020.11:g.57202582G>A	1000Genomes
rs764292927	p.Ser219Leu	missense variant	-	NC_000020.11:g.57202579G>A	ExAC,gnomAD
rs1253720722	p.Glu221Lys	missense variant	-	NC_000020.11:g.57202574C>T	gnomAD
rs775789240	p.Val225Gly	missense variant	-	NC_000020.11:g.57202561A>C	ExAC,gnomAD
rs1242190341	p.Val225Leu	missense variant	-	NC_000020.11:g.57202562C>G	TOPMed
NCI-TCGA novel	p.Ile228Leu	missense variant	-	NC_000020.11:g.57202553T>G	NCI-TCGA
rs746092842	p.Thr229Ala	missense variant	-	NC_000020.11:g.57202550T>C	ExAC,gnomAD
rs1338073615	p.Ala230Thr	missense variant	-	NC_000020.11:g.57202547C>T	gnomAD
rs774630143	p.Ala230Gly	missense variant	-	NC_000020.11:g.57202546G>C	ExAC,gnomAD
rs771242712	p.Thr231Pro	missense variant	-	NC_000020.11:g.57202544T>G	ExAC,gnomAD
rs1442370398	p.Asn233Lys	missense variant	-	NC_000020.11:g.57202536G>T	TOPMed
rs749814408	p.His234Asn	missense variant	-	NC_000020.11:g.57202535G>T	ExAC,gnomAD
rs755625837	p.Val237Ile	missense variant	-	NC_000020.11:g.57202526C>T	ExAC,TOPMed,gnomAD
rs570170347	p.Asn238Ser	missense variant	-	NC_000020.11:g.57202522T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1411833009	p.Asn238His	missense variant	-	NC_000020.11:g.57202523T>G	gnomAD
rs780738237	p.Pro239Leu	missense variant	-	NC_000020.11:g.57202519G>A	ExAC,TOPMed,gnomAD
rs116720786	p.Arg240Trp	missense variant	-	NC_000020.11:g.57202517G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202084512	p.Arg240Gln	missense variant	-	NC_000020.11:g.57202516C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202084512	p.Arg240Leu	missense variant	-	NC_000020.11:g.57202516C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758218504	p.Gly244Asp	missense variant	-	NC_000020.11:g.57202504C>T	ExAC,TOPMed,gnomAD
rs758218504	p.Gly244Val	missense variant	-	NC_000020.11:g.57202504C>A	ExAC,TOPMed,gnomAD
rs145527493	p.Ser248Leu	missense variant	-	NC_000020.11:g.57202492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1425505727	p.Glu250Val	missense variant	-	NC_000020.11:g.57202486T>A	gnomAD
RCV000416579	p.Thr251Met	missense variant	Congenital anomalies of kidney and urinary tract (CAKUT)	NC_000020.11:g.57202483G>A	ClinVar
rs112344257	p.Thr251Met	missense variant	-	NC_000020.11:g.57202483G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu252Met	missense variant	-	NC_000020.11:g.57202481G>T	NCI-TCGA
rs752779943	p.Leu252Pro	missense variant	-	NC_000020.11:g.57202480A>G	ExAC,gnomAD
rs752779943	p.Leu252Gln	missense variant	-	NC_000020.11:g.57202480A>T	ExAC,gnomAD
rs1176413836	p.Asp253Tyr	missense variant	-	NC_000020.11:g.57202478C>A	gnomAD
rs777149291	p.Gly254Glu	missense variant	-	NC_000020.11:g.57183919C>T	ExAC,gnomAD
rs767615840	p.Gly254Trp	missense variant	-	NC_000020.11:g.57202475C>A	ExAC,gnomAD
rs1368751662	p.Ser256Asn	missense variant	-	NC_000020.11:g.57183913C>T	gnomAD
rs1322461788	p.Ile257Thr	missense variant	-	NC_000020.11:g.57183910A>G	TOPMed,gnomAD
rs768064909	p.Pro259Leu	missense variant	-	NC_000020.11:g.57183904G>A	ExAC,gnomAD
rs746454446	p.Lys260Glu	missense variant	-	NC_000020.11:g.57183902T>C	ExAC,gnomAD
rs765522022	p.Ala262Val	missense variant	-	NC_000020.11:g.57183895G>A	TOPMed,gnomAD
rs1425293454	p.Ile265Ser	missense variant	-	NC_000020.11:g.57183886A>C	TOPMed,gnomAD
rs1425293454	p.Ile265Thr	missense variant	-	NC_000020.11:g.57183886A>G	TOPMed,gnomAD
rs148287752	p.Arg267Trp	missense variant	-	NC_000020.11:g.57183881G>A	ESP,ExAC,TOPMed,gnomAD
rs143311015	p.Arg267Gln	missense variant	-	NC_000020.11:g.57183880C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149163942	p.His268Gln	missense variant	-	NC_000020.11:g.57183876G>C	ESP,ExAC,TOPMed,gnomAD
rs757024706	p.Gly269Arg	missense variant	-	NC_000020.11:g.57183875C>T	ExAC,TOPMed,gnomAD
rs1247722047	p.Pro270Arg	missense variant	-	NC_000020.11:g.57183871G>C	gnomAD
NCI-TCGA novel	p.Gln271His	missense variant	-	NC_000020.11:g.57183867C>G	NCI-TCGA
NCI-TCGA novel	p.Gln271Ter	stop gained	-	NC_000020.11:g.57183869G>A	NCI-TCGA
rs1314114436	p.Asn272Ser	missense variant	-	NC_000020.11:g.57183865T>C	gnomAD
rs1279572591	p.Asn272Lys	missense variant	-	NC_000020.11:g.57183864G>C	TOPMed,gnomAD
rs755997469	p.Val278Met	missense variant	-	NC_000020.11:g.57183848C>T	ExAC,gnomAD
rs560540219	p.Ala283Thr	missense variant	-	NC_000020.11:g.57183833C>T	1000Genomes,ExAC,gnomAD
rs758656939	p.Thr284Met	missense variant	-	NC_000020.11:g.57183829G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu285Asp	missense variant	-	NC_000020.11:g.57183825C>A	NCI-TCGA
rs765543990	p.Val286Ala	missense variant	-	NC_000020.11:g.57183823A>G	ExAC,gnomAD
rs1286853985	p.Val286Phe	missense variant	-	NC_000020.11:g.57183824C>A	gnomAD
NCI-TCGA novel	p.Arg289His	missense variant	-	NC_000020.11:g.57183814C>T	NCI-TCGA
COSM6160464	p.Arg289Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57183815G>C	NCI-TCGA Cosmic
rs1376006069	p.Ser290Gly	missense variant	-	NC_000020.11:g.57183812T>C	TOPMed
rs1159102383	p.Ile291Ser	missense variant	-	NC_000020.11:g.57183808A>C	TOPMed
rs777009147	p.Ile291Met	missense variant	-	NC_000020.11:g.57183807G>C	ExAC
NCI-TCGA novel	p.Arg292Trp	missense variant	-	NC_000020.11:g.57183806G>A	NCI-TCGA
COSM1028335	p.Arg292Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57183805C>T	NCI-TCGA Cosmic
rs761254136	p.Thr294Met	missense variant	-	NC_000020.11:g.57183799G>A	ExAC,TOPMed,gnomAD
rs141716429	p.Gly295Glu	missense variant	-	NC_000020.11:g.57183796C>T	ESP
rs775192767	p.Ser296Arg	missense variant	-	NC_000020.11:g.57183794T>G	ExAC,gnomAD
COSM4878250	p.Ser296Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57183793C>T	NCI-TCGA Cosmic
rs1327735915	p.Lys297Gln	missense variant	-	NC_000020.11:g.57183791T>G	TOPMed
rs1450592604	p.Gln298Glu	missense variant	-	NC_000020.11:g.57183788G>C	gnomAD
rs1247818896	p.Arg299Cys	missense variant	-	NC_000020.11:g.57183785G>A	gnomAD
rs771679633	p.Arg299His	missense variant	-	NC_000020.11:g.57183784C>T	ExAC,TOPMed,gnomAD
rs745550040	p.Ser300Ile	missense variant	-	NC_000020.11:g.57183781C>A	ExAC,gnomAD
RCV000416586	p.Ser300Arg	missense variant	Congenital anomalies of kidney and urinary tract (CAKUT)	NC_000020.11:g.57183780G>C	ClinVar
rs540533068	p.Ser300Arg	missense variant	-	NC_000020.11:g.57183780G>T	1000Genomes,ExAC,gnomAD
rs540533068	p.Ser300Arg	missense variant	-	NC_000020.11:g.57183780G>C	1000Genomes,ExAC,gnomAD
rs749169949	p.Arg303His	missense variant	-	NC_000020.11:g.57183772C>T	ExAC,gnomAD
rs770634021	p.Arg303Cys	missense variant	-	NC_000020.11:g.57183773G>A	ExAC,TOPMed,gnomAD
rs756092588	p.Ser304Phe	missense variant	-	NC_000020.11:g.57183769G>A	ExAC,gnomAD
rs756092588	p.Ser304Tyr	missense variant	-	NC_000020.11:g.57183769G>T	ExAC,gnomAD
rs202153108	p.Thr306Met	missense variant	-	NC_000020.11:g.57183763G>A	ExAC,TOPMed,gnomAD
rs1298665568	p.Thr306Ala	missense variant	-	NC_000020.11:g.57183764T>C	TOPMed
rs1250712217	p.Pro307His	missense variant	-	NC_000020.11:g.57183760G>T	gnomAD
rs1379602481	p.Asn309Ile	missense variant	-	NC_000020.11:g.57183754T>A	TOPMed,gnomAD
rs1379602481	p.Asn309Ser	missense variant	-	NC_000020.11:g.57183754T>C	TOPMed,gnomAD
rs931893519	p.Glu311Asp	missense variant	-	NC_000020.11:g.57183747T>G	gnomAD
rs758424883	p.Glu311Gly	missense variant	-	NC_000020.11:g.57183748T>C	ExAC,TOPMed,gnomAD
rs750659557	p.Ala312Ser	missense variant	-	NC_000020.11:g.57183746C>A	ExAC,gnomAD
rs1371901034	p.Leu313Pro	missense variant	-	NC_000020.11:g.57183742A>G	gnomAD
NCI-TCGA novel	p.Arg314Leu	missense variant	-	NC_000020.11:g.57183739C>A	NCI-TCGA
rs765434399	p.Arg314Gln	missense variant	-	NC_000020.11:g.57183739C>T	ExAC,TOPMed,gnomAD
rs919226290	p.Arg314Trp	missense variant	-	NC_000020.11:g.57183740G>A	TOPMed,gnomAD
rs183792918	p.Met315Ile	missense variant	-	NC_000020.11:g.57183735C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757417087	p.Met315Leu	missense variant	-	NC_000020.11:g.57183737T>G	ExAC,gnomAD
rs764349021	p.Ala316Ser	missense variant	-	NC_000020.11:g.57183734C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn317Lys	missense variant	-	NC_000020.11:g.57183729G>T	NCI-TCGA
rs761307267	p.Asn317Ser	missense variant	-	NC_000020.11:g.57183730T>C	ExAC,TOPMed,gnomAD
rs966044988	p.Val318Met	missense variant	-	NC_000020.11:g.57183728C>T	gnomAD
NCI-TCGA novel	p.Ala319Thr	missense variant	-	NC_000020.11:g.57183725C>T	NCI-TCGA
rs61733438	p.Asn321Ser	missense variant	-	NC_000020.11:g.57175004T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1325824428	p.Ser323Arg	missense variant	-	NC_000020.11:g.57174999T>G	gnomAD
rs200825690	p.Asp325Asn	missense variant	-	NC_000020.11:g.57174993C>T	ExAC,TOPMed,gnomAD
rs751126578	p.Gln326Glu	missense variant	-	NC_000020.11:g.57174990G>C	ExAC,gnomAD
rs754520569	p.Ala329Ser	missense variant	-	NC_000020.11:g.57174981C>A	ExAC,gnomAD
rs754520569	p.Ala329Pro	missense variant	-	NC_000020.11:g.57174981C>G	ExAC,gnomAD
rs1362155862	p.Cys330Tyr	missense variant	-	NC_000020.11:g.57174977C>T	gnomAD
rs1178383520	p.Lys332Glu	missense variant	-	NC_000020.11:g.57174972T>C	gnomAD
rs772689429	p.Glu334Lys	missense variant	-	NC_000020.11:g.57174966C>T	ExAC,gnomAD
rs1191655668	p.Tyr336Ter	stop gained	-	NC_000020.11:g.57174958A>T	gnomAD
rs761532385	p.Arg340Gln	missense variant	-	NC_000020.11:g.57174947C>T	ExAC,gnomAD
rs769591631	p.Arg340Ter	stop gained	-	NC_000020.11:g.57174948G>A	ExAC,gnomAD
rs1348164886	p.Asp341Glu	missense variant	-	NC_000020.11:g.57174943G>C	TOPMed,gnomAD
rs1233430129	p.Gly343Asp	missense variant	-	NC_000020.11:g.57174938C>T	gnomAD
rs1311095003	p.Gln345Lys	missense variant	-	NC_000020.11:g.57174933G>T	gnomAD
rs1258054670	p.Ala350Thr	missense variant	-	NC_000020.11:g.57173298C>T	gnomAD
rs372973923	p.Ala350Val	missense variant	-	NC_000020.11:g.57173297G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Gly353Asp	missense variant	-	NC_000020.11:g.57173288C>T	NCI-TCGA
rs962224086	p.Ala355Thr	missense variant	-	NC_000020.11:g.57173283C>T	TOPMed,gnomAD
rs1195673158	p.Ala355Gly	missense variant	-	NC_000020.11:g.57173282G>C	gnomAD
rs749392235	p.Ala356Thr	missense variant	-	NC_000020.11:g.57173280C>T	ExAC,TOPMed,gnomAD
rs1234260013	p.Glu360Lys	missense variant	-	NC_000020.11:g.57173268C>T	TOPMed,gnomAD
rs773408240	p.Glu360Asp	missense variant	-	NC_000020.11:g.57173266C>G	ExAC,gnomAD
rs748347077	p.Ala364Ser	missense variant	-	NC_000020.11:g.57173256C>A	ExAC,gnomAD
rs909415889	p.Asn368Asp	missense variant	-	NC_000020.11:g.57173244T>C	gnomAD
COSM4902650	p.Asn368His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57173244T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met371Val	missense variant	-	NC_000020.11:g.57173235T>C	NCI-TCGA
rs755248955	p.Met371Thr	missense variant	-	NC_000020.11:g.57173234A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn372Ser	missense variant	-	NC_000020.11:g.57173231T>C	NCI-TCGA
rs780359443	p.Ala373Thr	missense variant	-	NC_000020.11:g.57173229C>T	ExAC,gnomAD
rs749995679	p.Asn375Ser	missense variant	-	NC_000020.11:g.57173222T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala377Thr	missense variant	-	NC_000020.11:g.57173217C>T	NCI-TCGA
COSM1028331	p.Ala377Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57173216G>A	NCI-TCGA Cosmic
rs1213572809	p.Gln380His	missense variant	-	NC_000020.11:g.57173206C>G	TOPMed
rs1275787189	p.Thr381Met	missense variant	-	NC_000020.11:g.57173204G>A	TOPMed
rs763975815	p.Leu382Val	missense variant	-	NC_000020.11:g.57173202G>C	ExAC,gnomAD
rs764960272	p.Val383Ile	missense variant	-	NC_000020.11:g.57171108C>T	gnomAD
rs1447208985	p.His384Tyr	missense variant	-	NC_000020.11:g.57171105G>A	TOPMed
rs148632870	p.Ile386Val	missense variant	-	NC_000020.11:g.57171099T>C	ESP,ExAC,TOPMed,gnomAD
rs1374249090	p.Ile386Asn	missense variant	-	NC_000020.11:g.57171098A>T	gnomAD
rs201635368	p.Pro388Leu	missense variant	-	NC_000020.11:g.57171092G>A	1000Genomes,ExAC,gnomAD
rs766490422	p.Thr390Met	missense variant	-	NC_000020.11:g.57171086G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val391Gly	missense variant	-	NC_000020.11:g.57171083A>C	NCI-TCGA
NCI-TCGA novel	p.Pro392His	missense variant	-	NC_000020.11:g.57171080G>T	NCI-TCGA
rs781751688	p.Pro392Ala	missense variant	-	NC_000020.11:g.57171081G>C	TOPMed
COSM6160465	p.Pro392Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57171080G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys395Phe	missense variant	-	NC_000020.11:g.57171071C>A	NCI-TCGA
rs764205529	p.Cys396Tyr	missense variant	-	NC_000020.11:g.57171068C>T	ExAC,gnomAD
rs1210341077	p.Cys396Ter	stop gained	-	NC_000020.11:g.57171067A>T	gnomAD
rs374290827	p.Ala397Val	missense variant	-	NC_000020.11:g.57171065G>A	ESP,ExAC,TOPMed,gnomAD
rs1271787915	p.Gln400His	missense variant	-	NC_000020.11:g.57171055C>A	TOPMed
NCI-TCGA novel	p.Asn402Asp	missense variant	-	NC_000020.11:g.57171051T>C	NCI-TCGA
rs759832074	p.Asn402Ser	missense variant	-	NC_000020.11:g.57171050T>C	ExAC,TOPMed,gnomAD
rs1270557215	p.Ala403Gly	missense variant	-	NC_000020.11:g.57171047G>C	gnomAD
NCI-TCGA novel	p.Ile404Phe	missense variant	-	NC_000020.11:g.57171045T>A	NCI-TCGA
rs1292292967	p.Val406Ile	missense variant	-	NC_000020.11:g.57171039C>T	TOPMed,gnomAD
rs771473569	p.Leu407Val	missense variant	-	NC_000020.11:g.57171036G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr408Cys	missense variant	-	NC_000020.11:g.57171032T>C	NCI-TCGA
rs777176857	p.Phe409Leu	missense variant	-	NC_000020.11:g.57171028G>C	ExAC,TOPMed,gnomAD
rs1183761358	p.Asp410Asn	missense variant	-	NC_000020.11:g.57171027C>T	TOPMed
rs1462910266	p.Asp411Gly	missense variant	-	NC_000020.11:g.57171023T>C	gnomAD
NCI-TCGA novel	p.Val415Gly	missense variant	-	NC_000020.11:g.57171011A>C	NCI-TCGA
rs1463340387	p.Val415Ile	missense variant	-	NC_000020.11:g.57171012C>T	gnomAD
COSM1028329	p.Lys418Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57171001C>A	NCI-TCGA Cosmic
rs780828195	p.Met423Val	missense variant	-	NC_000020.11:g.57170988T>C	ExAC,TOPMed,gnomAD
rs1252706270	p.Arg426Trp	missense variant	-	NC_000020.11:g.57170979G>A	gnomAD
rs751458817	p.Arg426Gln	missense variant	-	NC_000020.11:g.57170978C>T	ExAC,TOPMed,gnomAD
rs1480294472	p.Ala427Gly	missense variant	-	NC_000020.11:g.57170975G>C	gnomAD
NCI-TCGA novel	p.Gly429Asp	missense variant	-	NC_000020.11:g.57170969C>T	NCI-TCGA
rs779973881	p.Gly429Ala	missense variant	-	NC_000020.11:g.57170969C>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0001815	Primary Myelofibrosis	disease	BEFREE;LHGDN
C0003507	Aortic Valve Stenosis	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0005940	Bone Diseases	group	BEFREE
C0005974	Bone Resorption	phenotype	CTD_human
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006272	Bronchiolitis Obliterans	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0007785	Cerebral Infarction	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0007873	Uterine Cervical Neoplasm	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0009319	Colitis	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND
C0009375	Colonic Neoplasms	group	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE;LHGDN
C0010346	Crohn 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	CTD_human
C0015802	Femoral Fractures	group	CTD_human
C0016658	Fracture	group	CTD_human
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0020542	Pulmonary Hypertension	phenotype	LHGDN
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C0022408	Arthropathy	group	LHGDN
C0022658	Kidney Diseases	group	LHGDN;RGD
C0022660	Kidney Failure, Acute	disease	BEFREE
C0022661	Kidney Failure, Chronic	disease	BEFREE
C0022672	Acute Kidney Tubular Necrosis	disease	RGD
C0023890	Liver Cirrhosis	disease	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0024299	Lymphoma	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE;CTD_human
C0025202	melanoma	disease	BEFREE;LHGDN
C0026277	Mixed Salivary Gland Tumor	disease	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027708	Nephroblastoma	disease	RGD
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029453	Osteopenia	disease	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0031117	Peripheral Neuropathy	group	BEFREE
C0031511	Pheochromocytoma	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE;CTD_human;LHGDN
C0034069	Pulmonary Fibrosis	disease	BEFREE;CTD_human
C0034186	Pyelonephritis	disease	RGD
C0035078	Kidney Failure	disease	BEFREE
C0037116	Silicosis	disease	BEFREE
C0037205	Sirenomelia	disease	BEFREE
C0037944	Spinal Stenosis	phenotype	BEFREE
C0038018	Spondylolysis	disease	BEFREE
C0038356	Stomach Neoplasms	group	CTD_human
C0038454	Cerebrovascular accident	group	BEFREE
C0041696	Unipolar Depression	disease	BEFREE;PSYGENET
C0085786	Hamman-Rich syndrome	disease	CTD_human
C0151650	Renal fibrosis	disease	BEFREE
C0151747	Renal tubular disorder	group	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0157946	Osteoarthrosis, localized, not specified whether primary or secondary	disease	MGD
C0158266	Intervertebral Disc Degeneration	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206692	Carcinoma, Lobular	disease	BEFREE
C0220633	Uveal melanoma	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0239946	Fibrosis, Liver	disease	BEFREE
C0264184	Degenerative spondylolisthesis	disease	BEFREE
C0264936	Secondary pulmonary hypertension	disease	BEFREE
C0269102	Endometrioma	disease	CTD_human
C0278488	Carcinoma breast stage IV	disease	BEFREE
C0278510	Childhood Medulloblastoma	disease	BEFREE
C0278838	Prostate cancer recurrent	disease	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0332712	Fracture, spiral	disease	CTD_human
C0334463	Malignant Fibrous Histiocytoma	disease	BEFREE
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE
C0339143	Thyroid associated opthalmopathies	disease	BEFREE
C0341439	Chronic liver disease	group	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE;CTD_human
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0521720	Corneal fibrosis	disease	BEFREE
C0553718	Renal artery occlusion	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0848558	Hypospadias	group	BEFREE
C0936223	Metastatic Prostate Carcinoma	disease	BEFREE
C1176475	Ductal Carcinoma	disease	BEFREE
C1261473	Sarcoma	group	BEFREE
C1269683	Major Depressive Disorder	disease	BEFREE;PSYGENET
C1282496	Metastasis from malignant tumor of prostate	disease	BEFREE
C1332219	Adult Kidney Wilms Tumor	disease	RGD
C1333015	Childhood Kidney Wilms Tumor	disease	RGD
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1527249	Colorectal Cancer	disease	BEFREE
C1561643	Chronic Kidney Diseases	group	BEFREE
C1565489	Renal Insufficiency	disease	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1691215	Penile hypospadias	disease	BEFREE
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1861329	Spinal canal stenosis	phenotype	BEFREE
C2118460	Acute colitis	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2919755	Testicular dysgenesis syndrome	disease	BEFREE
C3854173	Pre-renal acute kidney injury	disease	BEFREE
C3887486	Interstitial lung fibrosis	phenotype	BEFREE
C4048328	cervical cancer	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005125	cytokine activity	IBA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA
GO:0008201	heparin binding	IEA
GO:0070700	BMP receptor binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	TAS
GO:0001503	ossification	IEA
GO:0001656	metanephros development	IEP
GO:0001657	ureteric bud development	ISS
GO:0001707	mesoderm formation	IEA
GO:0001823	mesonephros development	IEP
GO:0001837	epithelial to mesenchymal transition	TAS
GO:0003272	endocardial cushion formation	ISS
GO:0003344	pericardium morphogenesis	ISS
GO:0007411	axon guidance	IEA
GO:0009880	embryonic pattern specification	IEA
GO:0010628	positive regulation of gene expression	IDA
GO:0010664	negative regulation of striated muscle cell apoptotic process	ISS
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IDA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	TAS
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0016358	dendrite development	TAS
GO:0021502	neural fold elevation formation	ISS
GO:0030326	embryonic limb morphogenesis	IEA
GO:0030501	positive regulation of bone mineralization	IDA
GO:0030509	BMP signaling pathway	IDA
GO:0030509	BMP signaling pathway	IMP
GO:0030509	BMP signaling pathway	IBA
GO:0030855	epithelial cell differentiation	IEA
GO:0030902	hindbrain development	ISS
GO:0032088	negative regulation of NF-kappaB transcription factor activity	ISS
GO:0032355	response to estradiol	IEA
GO:0033280	response to vitamin D	IEA
GO:0034116	positive regulation of heterotypic cell-cell adhesion	IDA
GO:0034504	protein localization to nucleus	IDA
GO:0042326	negative regulation of phosphorylation	IDA
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0043065	positive regulation of apoptotic process	IEA
GO:0043401	steroid hormone mediated signaling pathway	IMP
GO:0043407	negative regulation of MAP kinase activity	IDA
GO:0043434	response to peptide hormone	IEA
GO:0045665	negative regulation of neuron differentiation	IDA
GO:0045669	positive regulation of osteoblast differentiation	IDA
GO:0045746	negative regulation of Notch signaling pathway	IEA
GO:0045786	negative regulation of cell cycle	IDA
GO:0045839	negative regulation of mitotic nuclear division	IDA
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	IEA
GO:0048596	embryonic camera-type eye morphogenesis	IEA
GO:0048738	cardiac muscle tissue development	ISS
GO:0048754	branching morphogenesis of an epithelial tube	IEA
GO:0048762	mesenchymal cell differentiation	IDA
GO:0048812	neuron projection morphogenesis	IDA
GO:0051216	cartilage development	IEA
GO:0060037	pharyngeal system development	ISS
GO:0060272	embryonic skeletal joint morphogenesis	IEA
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA
GO:0060395	SMAD protein signal transduction	IDA
GO:0060395	SMAD protein signal transduction	IBA
GO:0060411	cardiac septum morphogenesis	ISS
GO:0060445	branching involved in salivary gland morphogenesis	IEA
GO:0060485	mesenchyme development	ISS
GO:0060548	negative regulation of cell death	IDA
GO:0060686	negative regulation of prostatic bud formation	IEA
GO:0060687	regulation of branching involved in prostate gland morphogenesis	IEA
GO:0060710	chorio-allantoic fusion	ISS
GO:0061384	heart trabecula morphogenesis	ISS
GO:0070487	monocyte aggregation	IDA
GO:0071456	cellular response to hypoxia	ISS
GO:0071773	cellular response to BMP stimulus	IMP
GO:0072040	negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis	IEA
GO:0072125	negative regulation of glomerular mesangial cell proliferation	IDA
GO:0072133	metanephric mesenchyme morphogenesis	IEA
GO:0072134	nephrogenic mesenchyme morphogenesis	IEA
GO:0072136	metanephric mesenchymal cell proliferation involved in metanephros development	IEA
GO:1900006	positive regulation of dendrite development	IDA
GO:1900106	positive regulation of hyaluranon cable assembly	IDA
GO:1901223	negative regulation of NIK/NF-kappaB signaling	ISS
GO:1905069	allantois development	ISS
GO:1905312	positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:2000121	regulation of removal of superoxide radicals	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0031982	vesicle	IEA
GO:0062023	collagen-containing extracellular matrix	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1566948	Elastic fibre formation	TAS
R-HSA-2129379	Molecules associated with elastic fibres	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of BMP7 gene	30521419
C097949	1,25-dihydroxyvitamin D	1,25-dihydroxyvitamin D inhibits the reaction [Puromycin Aminonucleoside results in decreased expression of BMP7 mRNA]	19594554
C097949	1,25-dihydroxyvitamin D	1,25-dihydroxyvitamin D inhibits the reaction [Puromycin Aminonucleoside results in decreased expression of BMP7 protein]	19594554
D015056	1-Methyl-3-isobutylxanthine	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of BMP7 mRNA	29288687
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of BMP7 mRNA	19167446
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of BMP7 mRNA	21346803
C408604	2-(4-nitrophenyl)-4-(4-fluorophenyl)-5-(4-pyridinyl)-1H-imidazole	2-(4-nitrophenyl)-4-(4-fluorophenyl)-5-(4-pyridinyl)-1H-imidazole inhibits the reaction [(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone promotes the reaction [BMP2 protein results in increased expression of BMP7 mRNA]]	25789987
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of BMP7 mRNA	16788091
C090942	4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole	4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole inhibits the reaction [(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone promotes the reaction [BMP2 protein results in increased expression of BMP7 mRNA]]	25789987
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 BMP7 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 BMP7 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 BMP7 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 BMP7 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 BMP7 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 BMP7 mRNA	27188386
C000603489	(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone	2-(4-nitrophenyl)-4-(4-fluorophenyl)-5-(4-pyridinyl)-1H-imidazole inhibits the reaction [(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone promotes the reaction [BMP2 protein results in increased expression of BMP7 mRNA]]	25789987
C000603489	(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone	4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole inhibits the reaction [(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone promotes the reaction [BMP2 protein results in increased expression of BMP7 mRNA]]	25789987
C000603489	(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone	(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone promotes the reaction [BMP2 protein results in increased expression of BMP7 mRNA]	25789987
C000603489	(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone	SB 203580 inhibits the reaction [(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone promotes the reaction [BMP2 protein results in increased expression of BMP7 mRNA]]	25789987
C035763	5,5'-bis(8-(phenylamino)-1-naphthalenesulfonate)	5,5'-bis(8-(phenylamino)-1-naphthalenesulfonate) promotes the reaction [BMP7 protein binds to BMPR2 protein]	17363346
D000082	Acetaminophen	Acetaminophen affects the expression of BMP7 mRNA	17562736
D000111	Acetylcysteine	[Ethanol co-treated with Dietary Fats co-treated with Acetylcysteine] results in increased expression of BMP7 mRNA	21051528
C016601	afimoxifene	afimoxifene inhibits the reaction [Estrogens results in decreased expression of BMP7 mRNA]	21233418
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of BMP7 exon	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of BMP7 mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of BMP7 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of BMP7 exon	30157460
D016607	Aflatoxin M1	Aflatoxin M1 results in decreased expression of BMP7 mRNA	30928695
D000447	Aldehydes	Aldehydes results in increased expression of BMP7 mRNA	25014914
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of BMP7 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of BMP7 mRNA	24449571
C000228	aristolochic acid I	aristolochic acid I results in decreased expression of and results in decreased activity of BMP7 protein	22525892
C000228	aristolochic acid I	aristolochic acid I results in decreased expression of BMP7 mRNA	22525892
C000228	aristolochic acid I	BMP7 protein inhibits the reaction [[aristolochic acid I co-treated with aristolochic acid II] results in increased expression of CTNNB1 protein]	25663515
C000228	aristolochic acid I	BMP7 protein inhibits the reaction [[aristolochic acid I co-treated with aristolochic acid II] results in increased expression of VIM protein]	25663515
C000228	aristolochic acid I	BMP7 protein promotes the reaction [[aristolochic acid I co-treated with aristolochic acid II] results in increased expression of VIM protein]	25663515
C000228	aristolochic acid I	BMP7 protein results in decreased susceptibility to aristolochic acid I	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 protein inhibits the reaction [BMP7 protein results in decreased susceptibility to aristolochic acid I]	22525892
C042310	aristolochic acid II	BMP7 protein inhibits the reaction [[aristolochic acid I co-treated with aristolochic acid II] results in increased expression of CTNNB1 protein]	25663515
C042310	aristolochic acid II	BMP7 protein inhibits the reaction [[aristolochic acid I co-treated with aristolochic acid II] results in increased expression of VIM protein]	25663515
C042310	aristolochic acid II	BMP7 protein promotes the reaction [[aristolochic acid I co-treated with aristolochic acid II] results in increased expression of VIM protein]	25663515
D034341	Aristolochic Acids	BMP7 protein inhibits the reaction [Aristolochic Acids results in decreased expression of CDH1 protein]	20696222
D034341	Aristolochic Acids	BMP7 protein inhibits the reaction [Aristolochic Acids results in increased activity of CASP3 protein]	20696222
D034341	Aristolochic Acids	BMP7 protein inhibits the reaction [Aristolochic Acids results in increased expression of ACTA2 protein]	20696222
D034341	Aristolochic Acids	BMP7 protein inhibits the reaction [Aristolochic Acids results in increased secretion of TGFB1 protein]	20696222
D034341	Aristolochic Acids	BMP7 protein results in decreased susceptibility to Aristolochic Acids	20696222
D001205	Ascorbic Acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMP7 mRNA	15994055
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of BMP7 mRNA	29950665
C030935	benz(a)anthracene	benz(a)anthracene results in decreased expression of BMP7 mRNA	26377693
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BMP7 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BMP7 mRNA	19770486
C031463	beta-glycerophosphoric acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid] results in increased expression of BMP7 mRNA	15994055
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of BMP7 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of BMP7 mRNA	14994273
C006780	bisphenol A	bisphenol A results in decreased methylation of BMP7 promoter	27312807
C006780	bisphenol A	bisphenol A results in increased expression of BMP7 mRNA	30951980
C006780	bisphenol A	Fulvestrant inhibits the reaction [bisphenol A results in decreased expression of BMP7 mRNA]	14994273
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of BMP7 mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of BMP7 mRNA	25181051; 30816183;
C000611646	bisphenol F	bisphenol F results in increased expression of BMP7 mRNA	30951980
D001761	Bleomycin	Bleomycin results in decreased expression of BMP7 mRNA	29408570
D001895	Boron	Boron results in increased expression of BMP7 mRNA	21625915
C546611	brevetoxin 2	brevetoxin 2 results in increased expression of BMP7 mRNA	20498034
C018475	butyraldehyde	butyraldehyde results in increased expression of BMP7 mRNA	26079696
D002117	Calcitriol	Calcitriol results in decreased expression of BMP7 protein	15728789
D002185	Cannabidiol	Cannabidiol affects the methylation of BMP7 gene	30521419
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of BMP7 gene	30521419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BMP7 mRNA	25270620
D002330	Carmustine	Carmustine results in decreased expression of BMP7 mRNA	15980968
D002945	Cisplatin	BMP7 protein affects the susceptibility to Cisplatin	16217747
D002990	Clobetasol	Clobetasol results in increased expression of BMP7 mRNA	27462272
D003300	Copper	Copper results in increased expression of BMP7 mRNA	30556269
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of BMP7 mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of BMP7 mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of BMP7 mRNA	19167446
D003484	Cyanamide	Cyanamide inhibits the reaction [CGA protein results in increased expression of BMP7 mRNA]	22285649
D016572	Cyclosporine	Cyclosporine results in decreased expression of BMP7 mRNA	21354196
D000077209	Decitabine	Decitabine results in decreased methylation of BMP7 promoter	19283074
D000077209	Decitabine	Decitabine results in increased expression of BMP7 mRNA	16367923; 19283074;
D000077209	Decitabine	Decitabine results in increased expression of BMP7 mRNA	27915011
D003687	Dehydroepiandrosterone	Dehydroepiandrosterone results in decreased expression of BMP7 mRNA	17823450; 18709148;
D003907	Dexamethasone	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of BMP7 mRNA	29288687
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of BMP7 mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of BMP7 mRNA	19464577
C027118	didecyldimethylammonium	didecyldimethylammonium results in decreased expression of BMP7 mRNA	23537712
D004041	Dietary Fats	[Ethanol co-treated with Dietary Fats co-treated with Acetylcysteine] results in increased expression of BMP7 mRNA	21051528
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of BMP7 mRNA	24535843
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of BMP7 mRNA	17823450
D004147	Dioxins	Dioxins affects the expression of BMP7 mRNA	20463971
D004221	Disulfiram	Disulfiram inhibits the reaction [[FSHB protein co-treated with LHB protein co-treated with Testosterone] results in increased expression of BMP7 mRNA]	22285649
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 BMP7 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 BMP7 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 BMP7 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 BMP7 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 BMP7 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 BMP7 mRNA	27188386
D004317	Doxorubicin	Doxorubicin affects the expression of BMP7 mRNA	29803840
C070609	EMD 53998	EMD 53998 analog results in increased expression of BMP7 mRNA	24977338
C118739	entinostat	entinostat results in increased expression of BMP7 mRNA	26272509; 27188386;
C118739	entinostat	[NOG protein co-treated with entinostat 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 BMP7 mRNA	27188386
D004958	Estradiol	BMP7 protein inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of IGFBP1 mRNA]	20085912
D004958	Estradiol	BMP7 protein inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased secretion of IGFBP1 protein]	20085912
D004958	Estradiol	EGF protein inhibits the reaction [Estradiol results in decreased expression of BMP7 mRNA]	24758408
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of BMP7 mRNA	20085912
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of BMP7 mRNA	19619570
D004958	Estradiol	Estradiol results in decreased expression of BMP7 mRNA	14994273; 19167446; 24758408;
D004958	Estradiol	Estradiol results in increased expression of BMP7 mRNA	19619570
D004958	Estradiol	Estradiol results in decreased expression of BMP7 mRNA	14994273
D004958	Estradiol	Estradiol results in increased expression of BMP7 mRNA	19484750
D004958	Estradiol	Estradiol results in decreased expression of BMP7 mRNA	17823450; 18709148; 21984479;
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of BMP7 mRNA	26496021
D004958	Estradiol	BMP7 protein inhibits the reaction [IGF1 protein promotes the reaction [FSHB protein results in increased abundance of Estradiol]]	22067323
D004958	Estradiol	[BMP7 protein results in increased expression of CYP19A1 mRNA] promotes the reaction [FSHB protein results in increased abundance of Estradiol]	22067323
D004958	Estradiol	Estradiol results in decreased expression of BMP7 mRNA	15680359
D004967	Estrogens	afimoxifene inhibits the reaction [Estrogens results in decreased expression of BMP7 mRNA]	21233418
D004967	Estrogens	Estrogens results in decreased expression of BMP7 mRNA	21233418
D000431	Ethanol	Ethanol results in increased expression of BMP7 mRNA	30319688
D000431	Ethanol	[Ethanol co-treated with Dietary Fats co-treated with Acetylcysteine] results in increased expression of BMP7 mRNA	21051528
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of BMP7 mRNA	17606305
D017313	Fenretinide	Fenretinide results in increased expression of BMP7 mRNA	28973697
D018120	Finasteride	Finasteride results in increased expression of BMP7 mRNA	24136188
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [bisphenol A results in decreased expression of BMP7 mRNA]	14994273
D005944	Glucosamine	Glucosamine inhibits the reaction [IL1B results in increased expression of BMP7 mRNA]	17109745
D005944	Glucosamine	Glucosamine results in increased expression of BMP7 mRNA	17109745
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BMP7 mRNA	25613284
D007657	Ketone Bodies	Ketone Bodies results in decreased expression of BMP7 mRNA	16807920
D007854	Lead	Lead affects the expression of BMP7 mRNA	28903495
C533894	LG 100815	LG 100815 results in decreased expression of BMP7 mRNA	16951191
C432503	licarin A	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of BMP7 mRNA	29288687
C042720	mercuric bromide	mercuric bromide results in increased expression of BMP7 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 BMP7 mRNA	27188386
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of BMP7 mRNA	28001369
D008942	Mitoxantrone	BMP7 protein affects the susceptibility to Mitoxantrone	16217747
C406082	monomethylarsonous acid	monomethylarsonous acid results in increased expression of BMP7 mRNA	22108045
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of BMP7 mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of BMP7 mRNA	25554681; 25620056;
D009532	Nickel	Nickel results in decreased expression of BMP7 mRNA	24768652
C062198	octa-2,4,6-trienoic acid	octa-2,4,6-trienoic acid results in decreased expression of BMP7 mRNA	16951191
D015282	Octreotide	Octreotide promotes the reaction [BMP7 protein results in increased expression of ID1 mRNA]	23137853
D010081	Oxazolone	Oxazolone results in decreased expression of BMP7 mRNA	21404309
D010126	Ozone	Ozone results in decreased expression of BMP7 mRNA	28623178
D017239	Paclitaxel	BMP7 mRNA results in increased susceptibility to Paclitaxel	16322897
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 BMP7 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of BMP7 mRNA	26272509
C517782	pasireotide	pasireotide promotes the reaction [BMP7 protein results in increased expression of ID1 mRNA]	23137853
C046012	pentanal	pentanal results in increased expression of BMP7 mRNA	26079696
C101816	perfluoro-n-nonanoic acid	perfluoro-n-nonanoic acid results in decreased expression of BMP7 mRNA	21984479
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of BMP7 mRNA	17560707
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of BMP7 mRNA	18709148; 21984479;
D010656	Phenylephrine	Phenylephrine results in decreased expression of BMP7 mRNA	18158353
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 BMP7 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of BMP7 mRNA	26272509
D010936	Plant Extracts	Plant Extracts results in decreased expression of BMP7 mRNA	23557933
D011374	Progesterone	BMP7 protein inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of IGFBP1 mRNA]	20085912
D011374	Progesterone	BMP7 protein inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased secretion of IGFBP1 protein]	20085912
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of BMP7 mRNA	20085912
D011374	Progesterone	Progesterone results in decreased expression of BMP7 mRNA	20085912
D011374	Progesterone	[BMP7 protein results in decreased expression of STAR mRNA] inhibits the reaction [FSHB protein results in increased abundance of Progesterone]	22067323
D011374	Progesterone	GH1 protein inhibits the reaction [BMP7 protein inhibits the reaction [FSHB protein results in increased abundance of Progesterone]]	22067323
D011374	Progesterone	IGF1 protein inhibits the reaction [BMP7 protein inhibits the reaction [FSHB protein results in increased abundance of Progesterone]]	22067323
D011374	Progesterone	Progesterone results in increased expression of BMP7 mRNA	20726854
C005556	propionaldehyde	propionaldehyde results in increased expression of BMP7 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of BMP7 mRNA	24780913
D011509	Proteoglycans	BMP7 protein results in increased abundance of Proteoglycans	19011540
D011509	Proteoglycans	BMP7 protein results in increased chemical synthesis of Proteoglycans	22252971
D011509	Proteoglycans	Resveratrol promotes the reaction [BMP7 protein results in increased chemical synthesis of Proteoglycans]	22252971
D011692	Puromycin Aminonucleoside	1,25-dihydroxyvitamin D inhibits the reaction [Puromycin Aminonucleoside results in decreased expression of BMP7 mRNA]	19594554
D011692	Puromycin Aminonucleoside	1,25-dihydroxyvitamin D inhibits the reaction [Puromycin Aminonucleoside results in decreased expression of BMP7 protein]	19594554
D011692	Puromycin Aminonucleoside	Puromycin Aminonucleoside results in decreased expression of BMP7 mRNA	19594554
D011692	Puromycin Aminonucleoside	Puromycin Aminonucleoside results in decreased expression of BMP7 protein	19594554
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of BMP7 mRNA	27029645
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of BMP7 mRNA	14699072
D017257	Ramipril	Ramipril inhibits the reaction [Tacrolimus results in decreased expression of BMP7 protein]	17703430
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of BMP7 mRNA	19167446
D000077185	Resveratrol	Resveratrol promotes the reaction [BMP7 protein results in increased chemical synthesis of Proteoglycans]	22252971
C009166	retinol acetate	retinol acetate results in increased expression of BMP7 mRNA	16772331
C009172	rhodioloside	rhodioloside results in increased expression of BMP7 mRNA	24055767
D012402	Rotenone	Rotenone results in increased expression of BMP7 mRNA	28374803
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of BMP7 mRNA	21427059
C093642	SB 203580	SB 203580 inhibits the reaction [(4-(7-chloroquinolin-4-yl)piperazino)(1-phenyl-5-(trifluoromethyl)-1H-pyrazol-4-yl)methanone promotes the reaction [BMP2 protein results in increased expression of BMP7 mRNA]]	25789987
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of BMP7 mRNA	25895662
C017947	sodium arsenite	sodium arsenite affects the methylation of BMP7 gene	28589171
C017947	sodium arsenite	sodium arsenite results in decreased expression of BMP7 mRNA	23137061
D013311	Streptozocin	Streptozocin affects the expression of BMP7 mRNA	17437042
D013311	Streptozocin	Streptozocin results in increased expression of BMP7 protein	17437042
C105686	SU 5402	SU 5402 results in decreased expression of BMP7 mRNA	12421715
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of BMP7 mRNA	31299295
D016559	Tacrolimus	Ramipril inhibits the reaction [Tacrolimus results in decreased expression of BMP7 protein]	17703430
D016559	Tacrolimus	Tacrolimus results in decreased expression of BMP7 protein	17703430
D016559	Tacrolimus	Valsartan inhibits the reaction [Tacrolimus results in decreased expression of BMP7 protein]	17703430
D013629	Tamoxifen	Tamoxifen affects the expression of BMP7 mRNA	14699072
D013629	Tamoxifen	Tamoxifen results in increased expression of BMP7 mRNA	25123088
D013739	Testosterone	Disulfiram inhibits the reaction [[FSHB protein co-treated with LHB protein co-treated with Testosterone] results in increased expression of BMP7 mRNA]	22285649
D013739	Testosterone	[FSHB protein co-treated with LHB protein co-treated with Testosterone] results in increased expression of BMP7 mRNA	22285649
D013739	Testosterone	Testosterone results in increased expression of BMP7 mRNA	22138414
D013739	Testosterone	Tretinoin inhibits the reaction [[FSHB protein co-treated with LHB protein co-treated with Testosterone] results in increased expression of BMP7 mRNA]	22285649
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of BMP7 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BMP7 mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BMP7 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BMP7 mRNA	19770486
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of BMP7 mRNA	25613284
D013974	Thyroxine	Thyroxine results in decreased expression of BMP7 mRNA	17403546
D013974	Thyroxine	Thyroxine results in increased expression of BMP7 mRNA	17403546
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of BMP7 mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in decreased expression of BMP7 mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of BMP7 mRNA	29545142
D014212	Tretinoin	Tretinoin results in decreased expression of BMP7 mRNA	23724009; 23830798;
D014212	Tretinoin	Tretinoin results in increased expression of BMP7 mRNA	17196394
D014212	Tretinoin	SHH protein promotes the reaction [Tretinoin results in increased expression of BMP7 mRNA]	15996115
D014212	Tretinoin	Tretinoin inhibits the reaction [[FSHB protein co-treated with LHB protein co-treated with Testosterone] results in increased expression of BMP7 mRNA]	22285649
D014212	Tretinoin	Tretinoin results in increased expression of BMP7 mRNA	15996115
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 BMP7 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of BMP7 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of BMP7 mRNA	30510588
D014284	Triiodothyronine	Triiodothyronine results in increased expression of BMP7 mRNA	17403546
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of BMP7 mRNA	19042947
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 BMP7 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of BMP7 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of BMP7 mRNA	23179753; 24383497; 24935251; 26272509; 27188386;
D014635	Valproic Acid	Valproic Acid results in increased expression of BMP7 mRNA	19136453; 21427059;
D000068756	Valsartan	Valsartan inhibits the reaction [Tacrolimus results in decreased expression of BMP7 protein]	17703430
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of BMP7 gene	25560391
D000077337	Vorinostat	Vorinostat results in increased expression of BMP7 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0891	Chondrogenesis
KW-0202	Cytokine
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0892	Osteogenesis
KW-0582	Pharmaceutical
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR001839	TGF-b_C
IPR001111	TGF-b_propeptide
IPR015615	TGF-beta-rel
IPR017948	TGFb_CS

PROSITE

PROSITE ID	PROSITE Term
PS00250	TGF_BETA_1
PS51362	TGF_BETA_2

Pfam

Pfam ID	Pfam Term
PF00019	TGF_beta
PF00688	TGFb_propeptide

Gene: BMP7

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

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