CleftGeneDB-Search

Gene: EDNRA

Basic information

Tag	Content
Uniprot ID	P25101; B2R723; B4E2V6; B7Z9G6; D3DP03; E7ER36; O43441; Q16432; Q16433; Q8TBH2;
Entrez ID	1909
Genbank protein ID	AAB94859.1; AAB36327.1; AAQ87880.1; BAA14359.1; AAB20278.1; AAB25530.2; BAG65268.1; CAA43953.1; AAB36326.1; BAH14302.1; AAH22511.1; EAX05019.1; AAP32294.1; AAB23644.1; AAB25212.1; AAB36325.1; AAA58447.1; AAB20407.1; EAX05021.1; BAA01920.1; BAG35670.1;
Genbank nucleotide ID	NM_001957.3; NM_001166055.1; NM_001256283.1;
Ensembl protein ID	ENSP00000351359; ENSP00000496976; ENSP00000425354; ENSP00000425281; ENSP00000315011; ENSP00000498969; ENSP00000427259;
Ensembl nucleotide ID	ENSG00000151617
Gene name	Endothelin-1 receptor
Gene symbol	EDNRA
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.
Sequence	METLCLRASF WLALVGCVIS DNPERYSTNL SNHVDDFTTF RGTELSFLVT THQPTNLVLP 60 SNGSMHNYCP QQTKITSAFK YINTVISCTI FIVGMVGNAT LLRIIYQNKC MRNGPNALIA 120 SLALGDLIYV VIDLPINVFK LLAGRWPFDH NDFGVFLCKL FPFLQKSSVG ITVLNLCALS 180 VDRYRAVASW SRVQGIGIPL VTAIEIVSIW ILSFILAIPE AIGFVMVPFE YRGEQHKTCM 240 LNATSKFMEF YQDVKDWWLF GFYFCMPLVC TAIFYTLMTC EMLNRRNGSL RIALSEHLKQ 300 RREVAKTVFC LVVIFALCWF PLHLSRILKK TVYNEMDKNR CELLSFLLLM DYIGINLATM 360 NSCINPIALY FVSKKFKNCF QSCLCCCCYQ SKSLMTSVPM NGTSIQWKNH DQNNHNTDRS 420 SHKDSMN 427

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	EDNRA	281749	P21450		Bos taurus	Prediction	More>>
1:1 ortholog	EDNRA	450187	Q5J7U3		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EDNRA	102174144	A0A452FAQ5		Capra hircus	Prediction	More>>
1:1 ortholog	EDNRA	100062644	A0A3Q2HSI2		Equus caballus	Prediction	More>>
1:1 ortholog	EDNRA	1909	P25101		Homo sapiens	Prediction	More>>
1:1 ortholog	Ednra	13617	Q61614	CPO	Mus musculus	Publication	More>>
1:1 ortholog	EDNRA	461530	H2QQ94		Pan troglodytes	Prediction	More>>
1:1 ortholog	EDNRA		F1RS70		Sus scrofa	Prediction	More>>
1:1 ortholog	ednrA	100126073	A5A8K3		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Ednra	24326	A0A0G2JSX5		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM3600761	p.Glu2Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485687A>C	NCI-TCGA Cosmic
COSM3127123	p.Glu2Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485685G>A	NCI-TCGA Cosmic
rs202082973	p.Thr3Ile	missense variant	-	NC_000004.12:g.147485689C>T	ESP,ExAC,gnomAD
rs751288819	p.Leu4Val	missense variant	-	NC_000004.12:g.147485691C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu6Ile	missense variant	-	NC_000004.12:g.147485697C>A	NCI-TCGA
rs752256111	p.Ser9Tyr	missense variant	-	NC_000004.12:g.147485707C>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp11Ter	stop gained	-	NC_000004.12:g.147485713G>A	NCI-TCGA
NCI-TCGA novel	p.Trp11Leu	missense variant	-	NC_000004.12:g.147485713G>T	NCI-TCGA
rs1156462695	p.Leu12Met	missense variant	-	NC_000004.12:g.147485715C>A	NCI-TCGA
rs1156462695	p.Leu12Met	missense variant	-	NC_000004.12:g.147485715C>A	gnomAD
rs755625335	p.Leu14Val	missense variant	-	NC_000004.12:g.147485721C>G	ExAC,gnomAD
rs777586355	p.Gly16Glu	missense variant	-	NC_000004.12:g.147485728G>A	ExAC,gnomAD
rs1258130495	p.Gly16Arg	missense variant	-	NC_000004.12:g.147485727G>A	TOPMed
rs1171495953	p.Cys17Ser	missense variant	-	NC_000004.12:g.147485730T>A	TOPMed,gnomAD
rs753498091	p.Ser20Ile	missense variant	-	NC_000004.12:g.147485740G>T	ExAC,gnomAD
rs1220111086	p.Asn22Ile	missense variant	-	NC_000004.12:g.147485746A>T	TOPMed
rs1011657202	p.Asn22His	missense variant	-	NC_000004.12:g.147485745A>C	TOPMed,gnomAD
rs1407801987	p.Pro23Leu	missense variant	-	NC_000004.12:g.147485749C>T	gnomAD
rs1309363591	p.Glu24Val	missense variant	-	NC_000004.12:g.147485752A>T	gnomAD
rs201076169	p.Thr28Arg	missense variant	-	NC_000004.12:g.147485764C>G	ExAC,gnomAD
rs202012442	p.Leu30Ile	missense variant	-	NC_000004.12:g.147485769C>A	gnomAD
rs746216943	p.His33Arg	missense variant	-	NC_000004.12:g.147485779A>G	ExAC,TOPMed,gnomAD
rs1254328233	p.Val34Met	missense variant	-	NC_000004.12:g.147485781G>A	gnomAD
rs772641212	p.Thr38Ile	missense variant	-	NC_000004.12:g.147485794C>T	ExAC,gnomAD
COSM4390328	p.Thr39Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485797C>A	NCI-TCGA Cosmic
rs1482254930	p.Thr39Ala	missense variant	-	NC_000004.12:g.147485796A>G	gnomAD
NCI-TCGA novel	p.Phe40Cys	missense variant	-	NC_000004.12:g.147485800T>G	NCI-TCGA
NCI-TCGA novel	p.Phe40PheSer	insertion	-	NC_000004.12:g.147485801_147485802insTTTTCA	NCI-TCGA
rs139739379	p.Arg41Cys	missense variant	-	NC_000004.12:g.147485802C>T	NCI-TCGA,NCI-TCGA Cosmic
rs188759418	p.Arg41His	missense variant	-	NC_000004.12:g.147485803G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139739379	p.Arg41Cys	missense variant	-	NC_000004.12:g.147485802C>T	1000Genomes,ESP,ExAC,gnomAD
rs188759418	p.Arg41Leu	missense variant	-	NC_000004.12:g.147485803G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs188759418	p.Arg41Pro	missense variant	-	NC_000004.12:g.147485803G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs188759418	p.Arg41His	missense variant	-	NC_000004.12:g.147485803G>A	NCI-TCGA,NCI-TCGA Cosmic
rs188759418	p.Arg41Pro	missense variant	-	NC_000004.12:g.147485803G>C	NCI-TCGA
COSM3600763	p.Ser46Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485818G>A	NCI-TCGA Cosmic
rs776662697	p.Ser46Arg	missense variant	-	NC_000004.12:g.147485817A>C	ExAC,TOPMed,gnomAD
rs776662697	p.Ser46Gly	missense variant	-	NC_000004.12:g.147485817A>G	ExAC,TOPMed,gnomAD
rs201089652	p.Val49Ile	missense variant	-	NC_000004.12:g.147485826G>A	ExAC,TOPMed,gnomAD
rs774268078	p.His52Arg	missense variant	-	NC_000004.12:g.147485836A>G	ExAC
rs1427520780	p.Gln53Ter	stop gained	-	NC_000004.12:g.147485838C>T	gnomAD
rs963968092	p.Thr55Ala	missense variant	-	NC_000004.12:g.147485844A>G	TOPMed,gnomAD
rs963968092	p.Thr55Pro	missense variant	-	NC_000004.12:g.147485844A>C	TOPMed,gnomAD
rs1371380159	p.Asn56Thr	missense variant	-	NC_000004.12:g.147485848A>C	TOPMed
rs1244981928	p.Leu57Val	missense variant	-	NC_000004.12:g.147485850T>G	gnomAD
rs149382490	p.Val58Ile	missense variant	-	NC_000004.12:g.147485853G>A	ESP,ExAC,gnomAD
rs767572768	p.Pro60Ser	missense variant	-	NC_000004.12:g.147485859C>T	ExAC,TOPMed,gnomAD
rs752630183	p.Pro60His	missense variant	-	NC_000004.12:g.147485860C>A	ExAC,TOPMed,gnomAD
COSM4929560	p.Asn62Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485865A>G	NCI-TCGA Cosmic
rs1373248197	p.Ser64Leu	missense variant	-	NC_000004.12:g.147485872C>T	gnomAD
rs369301823	p.Met65Val	missense variant	-	NC_000004.12:g.147485874A>G	1000Genomes,ESP,ExAC,TOPMed
rs1235155440	p.Met65Thr	missense variant	-	NC_000004.12:g.147485875T>C	TOPMed,gnomAD
rs763749000	p.Pro70Leu	missense variant	-	NC_000004.12:g.147485890C>T	ExAC,TOPMed,gnomAD
rs192190120	p.Ile86Val	missense variant	-	NC_000004.12:g.147485937A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs192190120	p.Ile86Leu	missense variant	-	NC_000004.12:g.147485937A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201438230	p.Ile86Met	missense variant	-	NC_000004.12:g.147485939A>G	ExAC,TOPMed,gnomAD
rs192190120	p.Ile86Leu	missense variant	-	NC_000004.12:g.147485937A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser87Tyr	missense variant	-	NC_000004.12:g.147485941C>A	NCI-TCGA
NCI-TCGA novel	p.Thr89Ile	missense variant	-	NC_000004.12:g.147485947C>T	NCI-TCGA
rs748172801	p.Ile92Val	missense variant	-	NC_000004.12:g.147485955A>G	ExAC,gnomAD
rs867209946	p.Val93Met	missense variant	-	NC_000004.12:g.147485958G>A	TOPMed,gnomAD
rs773246690	p.Gly94Ala	missense variant	-	NC_000004.12:g.147485962G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly94Ter	stop gained	-	NC_000004.12:g.147485961G>T	NCI-TCGA
rs200921476	p.Met95Thr	missense variant	-	NC_000004.12:g.147485965T>C	gnomAD
rs144440640	p.Val96Met	missense variant	-	NC_000004.12:g.147485967G>A	ESP,ExAC,TOPMed,gnomAD
rs367891598	p.Arg103Met	missense variant	-	NC_000004.12:g.147485989G>T	ExAC,TOPMed,gnomAD
rs1441651560	p.Arg103Gly	missense variant	-	NC_000004.12:g.147485988A>G	gnomAD
COSM4122619	p.Ile105Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485995T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr106ThrPheSerTerUnk	frameshift	-	NC_000004.12:g.147485995T>-	NCI-TCGA
rs1363196459	p.Gln107Arg	missense variant	-	NC_000004.12:g.147486001A>G	gnomAD
rs368930952	p.Asn108Lys	missense variant	-	NC_000004.12:g.147486005C>G	ESP,ExAC,gnomAD
rs764966380	p.Cys110Arg	missense variant	-	NC_000004.12:g.147486009T>C	ExAC,gnomAD
COSM3428211	p.Asn116Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147486027A>G	NCI-TCGA Cosmic
rs146147419	p.Ala117Val	missense variant	-	NC_000004.12:g.147486031C>T	NCI-TCGA,NCI-TCGA Cosmic
rs146147419	p.Ala117Val	missense variant	-	NC_000004.12:g.147486031C>T	ESP,ExAC,TOPMed,gnomAD
rs374053080	p.Ala117Thr	missense variant	-	NC_000004.12:g.147486030G>A	ESP,ExAC,TOPMed,gnomAD
COSM4919591	p.Leu124Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147486051C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu127Ile	missense variant	-	NC_000004.12:g.147486060C>A	NCI-TCGA
rs786205230	p.Tyr129Cys	missense variant	-	NC_000004.12:g.147486067A>G	gnomAD
rs786205230	p.Tyr129Phe	missense variant	-	NC_000004.12:g.147486067A>T	gnomAD
RCV000170509	p.Tyr129Phe	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147486067A>T	ClinVar
NCI-TCGA novel	p.Val131Ile	missense variant	-	NC_000004.12:g.147486072G>A	NCI-TCGA
NCI-TCGA novel	p.Leu134Val	missense variant	-	NC_000004.12:g.147486081C>G	NCI-TCGA
rs1396094394	p.Ile136Val	missense variant	-	NC_000004.12:g.147486087A>G	TOPMed,gnomAD
VAR_035758	p.Ile136Leu	Missense	-	-	UniProt
NCI-TCGA novel	p.Asn137Asp	missense variant	-	NC_000004.12:g.147486090A>G	NCI-TCGA
rs1162447103	p.Val138Ala	missense variant	-	NC_000004.12:g.147486094T>C	gnomAD
rs766009622	p.Gly144Arg	missense variant	-	NC_000004.12:g.147519860G>A	ExAC
rs747164622	p.Arg145His	missense variant	-	NC_000004.12:g.147519864G>A	ExAC,TOPMed,gnomAD
rs751925818	p.Arg145Cys	missense variant	-	NC_000004.12:g.147519863C>T	ExAC,TOPMed,gnomAD
rs751925818	p.Arg145Cys	missense variant	-	NC_000004.12:g.147519863C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1358725660	p.Asp149Glu	missense variant	-	NC_000004.12:g.147519877T>G	gnomAD
rs768088622	p.His150Tyr	missense variant	-	NC_000004.12:g.147519878C>T	ExAC,gnomAD
rs1315421727	p.Asn151Lys	missense variant	-	NC_000004.12:g.147519883T>A	gnomAD
rs1216937463	p.Phe153Cys	missense variant	-	NC_000004.12:g.147519888T>G	TOPMed
rs200206289	p.Val155Ile	missense variant	-	NC_000004.12:g.147519893G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu157Ile	missense variant	-	NC_000004.12:g.147519899C>A	NCI-TCGA
COSM4939970	p.Pro162His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147519915C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu164CysPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.147519917T>-	NCI-TCGA
RCV000624539	p.Ser168Leu	missense variant	Inborn genetic diseases	NC_000004.12:g.147519933C>T	ClinVar
rs1224900173	p.Ser168Leu	missense variant	-	NC_000004.12:g.147519933C>T	gnomAD
rs1311162653	p.Val169Met	missense variant	-	NC_000004.12:g.147519935G>A	gnomAD
rs1208606803	p.Gly170Glu	missense variant	-	NC_000004.12:g.147519939G>A	gnomAD
rs1282430058	p.Ile171Thr	missense variant	-	NC_000004.12:g.147519942T>C	gnomAD
rs1448060817	p.Val173Ile	missense variant	-	NC_000004.12:g.147519947G>A	gnomAD
rs199698388	p.Ala178Thr	missense variant	-	NC_000004.12:g.147519962G>A	ExAC,gnomAD
COSM1051837	p.Asp182Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147519975A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp190Ter	stop gained	-	NC_000004.12:g.147532527G>A	NCI-TCGA
rs1274081127	p.Arg192Cys	missense variant	-	NC_000004.12:g.147532531C>T	gnomAD
COSM732451	p.Gln194Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.147532537C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln194Lys	missense variant	-	NC_000004.12:g.147532537C>A	NCI-TCGA
COSM3600768	p.Gly195Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147532541G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly195Val	missense variant	-	NC_000004.12:g.147532541G>T	NCI-TCGA
rs140200727	p.Ile196Thr	missense variant	-	NC_000004.12:g.147532544T>C	ESP,TOPMed
NCI-TCGA novel	p.Gly197Trp	missense variant	-	NC_000004.12:g.147532546G>T	NCI-TCGA
NCI-TCGA novel	p.Pro199Thr	missense variant	-	NC_000004.12:g.147532552C>A	NCI-TCGA
rs1188302838	p.Ile204Val	missense variant	-	NC_000004.12:g.147532567A>G	gnomAD
NCI-TCGA novel	p.Ile204Phe	missense variant	-	NC_000004.12:g.147532567A>T	NCI-TCGA
COSM3825309	p.Glu205Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.147532570G>T	NCI-TCGA Cosmic
COSM3600770	p.Glu205Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147532570G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile206Thr	missense variant	-	NC_000004.12:g.147532574T>C	NCI-TCGA
NCI-TCGA novel	p.Ser208Phe	missense variant	-	NC_000004.12:g.147532580C>T	NCI-TCGA
rs771740107	p.Ile209Val	missense variant	-	NC_000004.12:g.147532582A>G	ExAC,TOPMed,gnomAD
rs1418152292	p.Ala217Ser	missense variant	-	NC_000004.12:g.147532606G>T	gnomAD
rs1156308413	p.Glu220Asp	missense variant	-	NC_000004.12:g.147532617A>T	gnomAD
rs761044752	p.Glu220Lys	missense variant	-	NC_000004.12:g.147532615G>A	ExAC,gnomAD
rs1333103798	p.Ala221Thr	missense variant	-	NC_000004.12:g.147532618G>A	TOPMed
rs905733945	p.Ala221Val	missense variant	-	NC_000004.12:g.147532619C>T	TOPMed,gnomAD
rs777240969	p.Ile222Val	missense variant	-	NC_000004.12:g.147532621A>G	ExAC,gnomAD
rs1365947741	p.Gly223Ala	missense variant	-	NC_000004.12:g.147532625G>C	TOPMed
rs765457542	p.Val225Ile	missense variant	-	NC_000004.12:g.147532630G>A	ExAC,TOPMed,gnomAD
rs543490260	p.Met226Val	missense variant	-	NC_000004.12:g.147532633A>G	1000Genomes,ExAC,gnomAD
rs543490260	p.Met226Leu	missense variant	-	NC_000004.12:g.147532633A>C	1000Genomes,ExAC,gnomAD
rs1281341172	p.Glu230Lys	missense variant	-	NC_000004.12:g.147532645G>A	gnomAD
rs766555186	p.Gly233Asp	missense variant	-	NC_000004.12:g.147532655G>A	ExAC,gnomAD
rs1278852665	p.Gln235His	missense variant	-	NC_000004.12:g.147532662G>C	gnomAD
COSM291335	p.Gln235Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147532660C>G	NCI-TCGA Cosmic
rs368282326	p.His236Arg	missense variant	-	NC_000004.12:g.147532664A>G	ESP,TOPMed
rs988548579	p.Asn242Ser	missense variant	-	NC_000004.12:g.147532682A>G	TOPMed
rs755889200	p.Ala243Gly	missense variant	-	NC_000004.12:g.147532685C>G	ExAC,gnomAD
rs752446511	p.Ala243Pro	missense variant	-	NC_000004.12:g.147532684G>C	ExAC,gnomAD
rs983062132	p.Ser245Pro	missense variant	-	NC_000004.12:g.147532690T>C	gnomAD
rs200425226	p.Met248Leu	missense variant	-	NC_000004.12:g.147532699A>T	ExAC,TOPMed,gnomAD
rs200425226	p.Met248Val	missense variant	-	NC_000004.12:g.147532699A>G	ExAC,TOPMed,gnomAD
rs745396045	p.Phe250Ser	missense variant	-	NC_000004.12:g.147535878T>C	ExAC,TOPMed,gnomAD
rs745396045	p.Phe250Tyr	missense variant	-	NC_000004.12:g.147535878T>A	ExAC,TOPMed,gnomAD
rs1469453376	p.Gln252His	missense variant	-	NC_000004.12:g.147535885A>C	gnomAD
rs757888386	p.Gln252Arg	missense variant	-	NC_000004.12:g.147535884A>G	ExAC,gnomAD
COSM6166319	p.Asp253Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147535886G>T	NCI-TCGA Cosmic
COSM4122620	p.Asp253Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147535886G>A	NCI-TCGA Cosmic
rs1242317099	p.Val254Gly	missense variant	-	NC_000004.12:g.147535890T>G	TOPMed
rs1208378265	p.Trp257Ter	stop gained	-	NC_000004.12:g.147535899G>A	gnomAD
rs746724758	p.Leu259Phe	missense variant	-	NC_000004.12:g.147535904C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe264Val	missense variant	-	NC_000004.12:g.147535919T>G	NCI-TCGA
rs906400370	p.Met266Val	missense variant	-	NC_000004.12:g.147535925A>G	TOPMed,gnomAD
COSM1051839	p.Pro267Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147535928C>T	NCI-TCGA Cosmic
rs1462059537	p.Ala272Val	missense variant	-	NC_000004.12:g.147535944C>T	gnomAD
rs1437262074	p.Thr276Ala	missense variant	-	NC_000004.12:g.147535955A>G	TOPMed
rs1159236679	p.Cys280Tyr	missense variant	-	NC_000004.12:g.147535968G>A	TOPMed,gnomAD
COSM3600772	p.Arg286Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147535986G>A	NCI-TCGA Cosmic
rs1232272668	p.Asn287Ser	missense variant	-	NC_000004.12:g.147535989A>G	gnomAD
rs200016399	p.Asn287Asp	missense variant	-	NC_000004.12:g.147535988A>G	ESP,ExAC,TOPMed,gnomAD
rs753632116	p.Leu290Trp	missense variant	-	NC_000004.12:g.147535998T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg291Gly	missense variant	-	NC_000004.12:g.147536000A>G	NCI-TCGA
NCI-TCGA novel	p.Arg291Thr	missense variant	-	NC_000004.12:g.147536001G>C	NCI-TCGA
rs1260007754	p.His297Tyr	missense variant	-	NC_000004.12:g.147536018C>T	gnomAD
rs761549167	p.His297Arg	missense variant	-	NC_000004.12:g.147536019A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu298Arg	missense variant	-	NC_000004.12:g.147536022T>G	NCI-TCGA
rs1218958699	p.Gln300Ter	stop gained	-	NC_000004.12:g.147536027C>T	TOPMed
rs750171725	p.Arg301His	missense variant	-	NC_000004.12:g.147539818G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg301Cys	missense variant	-	NC_000004.12:g.147539817C>T	NCI-TCGA
COSM1427425	p.Arg302Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.147539820C>T	NCI-TCGA Cosmic
rs763015080	p.Arg302Gln	missense variant	-	NC_000004.12:g.147539821G>A	ExAC,gnomAD
rs876657388	p.Glu303Lys	missense variant	-	NC_000004.12:g.147539823G>A	-
rs876657388	p.Glu303Lys	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	UniProt,dbSNP
VAR_073789	p.Glu303Lys	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	UniProt
RCV000170510	p.Glu303Lys	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	ClinVar
rs754487764	p.Val308Ile	missense variant	-	NC_000004.12:g.147539838G>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys310Ter	stop gained	-	NC_000004.12:g.147539846C>A	NCI-TCGA
rs781021302	p.Ala316Asp	missense variant	-	NC_000004.12:g.147539863C>A	ExAC
rs202191899	p.Leu317Phe	missense variant	-	NC_000004.12:g.147539865C>T	ESP,ExAC,TOPMed,gnomAD
rs202191899	p.Leu317Val	missense variant	-	NC_000004.12:g.147539865C>G	ESP,ExAC,TOPMed,gnomAD
rs1204047804	p.Arg326His	missense variant	-	NC_000004.12:g.147539893G>A	TOPMed,gnomAD
rs771470596	p.Glu335Gln	missense variant	-	NC_000004.12:g.147539919G>C	ExAC,TOPMed,gnomAD
rs771470596	p.Glu335Lys	missense variant	-	NC_000004.12:g.147539919G>A	ExAC,TOPMed,gnomAD
rs1394625720	p.Glu335Val	missense variant	-	NC_000004.12:g.147539920A>T	gnomAD
rs369936798	p.Met336Thr	missense variant	-	NC_000004.12:g.147539923T>C	ESP,ExAC,TOPMed,gnomAD
rs772182861	p.Lys338Asn	missense variant	-	NC_000004.12:g.147539930G>T	ExAC,gnomAD
rs772182861	p.Lys338Asn	missense variant	-	NC_000004.12:g.147539930G>C	ExAC,gnomAD
rs1456328796	p.Asn339Asp	missense variant	-	NC_000004.12:g.147539931A>G	TOPMed
COSM302113	p.Arg340Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.147539934C>T	NCI-TCGA Cosmic
rs200318138	p.Arg340Gln	missense variant	-	NC_000004.12:g.147539935G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg340TyrPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.147539933_147539934insTA	NCI-TCGA
rs747289151	p.Glu342Lys	missense variant	-	NC_000004.12:g.147539940G>A	ExAC,gnomAD
rs1196002441	p.Leu349Phe	missense variant	-	NC_000004.12:g.147540387C>T	TOPMed,gnomAD
rs1247822547	p.Tyr352His	missense variant	-	NC_000004.12:g.147540396T>C	gnomAD
NCI-TCGA novel	p.Tyr352Cys	missense variant	-	NC_000004.12:g.147540397A>G	NCI-TCGA
rs201758871	p.Gly354Ser	missense variant	-	NC_000004.12:g.147540402G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1422176394	p.Ile355Val	missense variant	-	NC_000004.12:g.147540405A>G	gnomAD
rs746426917	p.Asn356Asp	missense variant	-	NC_000004.12:g.147540408A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala358Thr	missense variant	-	NC_000004.12:g.147540414G>A	NCI-TCGA
rs1459435838	p.Met360Ile	missense variant	-	NC_000004.12:g.147540422G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Met360Ile	missense variant	-	NC_000004.12:g.147540422G>A	NCI-TCGA
NCI-TCGA novel	p.Ser362Leu	missense variant	-	NC_000004.12:g.147540427C>T	NCI-TCGA
rs780175310	p.Cys363Ser	missense variant	-	NC_000004.12:g.147540430G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile364Met	missense variant	-	NC_000004.12:g.147540434A>G	NCI-TCGA
rs201117684	p.Ala368Thr	missense variant	-	NC_000004.12:g.147540444G>A	1000Genomes,ExAC,gnomAD
rs768938796	p.Tyr370His	missense variant	-	NC_000004.12:g.147540450T>C	ExAC,gnomAD
rs754065595	p.Phe371Ile	missense variant	-	NC_000004.12:g.147540453T>A	gnomAD
rs749137757	p.Lys375Glu	missense variant	-	NC_000004.12:g.147540465A>G	ExAC,gnomAD
rs1219791712	p.Gln381Pro	missense variant	-	NC_000004.12:g.147540484A>C	TOPMed
RCV000786025	p.Gln381Pro	missense variant	-	NC_000004.12:g.147540484A>C	ClinVar
rs1370995465	p.Ser382Leu	missense variant	-	NC_000004.12:g.147542479C>T	TOPMed
NCI-TCGA novel	p.Ser382Ala	missense variant	-	NC_000004.12:g.147542478T>G	NCI-TCGA
rs1226849198	p.Cys386Tyr	missense variant	-	NC_000004.12:g.147542491G>A	gnomAD
rs778918018	p.Ser391Cys	missense variant	-	NC_000004.12:g.147542506C>G	ExAC,gnomAD
rs1328127839	p.Lys392Glu	missense variant	-	NC_000004.12:g.147542508A>G	TOPMed
rs1203866800	p.Met395Leu	missense variant	-	NC_000004.12:g.147542517A>T	gnomAD
rs1286984998	p.Met395Ile	missense variant	-	NC_000004.12:g.147542519G>A	gnomAD
rs772147672	p.Thr396Asn	missense variant	-	NC_000004.12:g.147542521C>A	ExAC,gnomAD
rs775518063	p.Ser397Leu	missense variant	-	NC_000004.12:g.147542524C>T	ExAC,TOPMed,gnomAD
rs1393761572	p.Met400Val	missense variant	-	NC_000004.12:g.147542532A>G	TOPMed
rs768101596	p.Gly402Ala	missense variant	-	NC_000004.12:g.147542539G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly402Glu	missense variant	-	NC_000004.12:g.147542539G>A	NCI-TCGA
rs1160552352	p.Thr403Ala	missense variant	-	NC_000004.12:g.147542541A>G	TOPMed
COSM6166317	p.Ile405Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147542547A>T	NCI-TCGA Cosmic
rs1368512467	p.Ile405Val	missense variant	-	NC_000004.12:g.147542547A>G	gnomAD
rs1343329605	p.Gln406Pro	missense variant	-	NC_000004.12:g.147542551A>C	gnomAD
rs565590856	p.His410Tyr	missense variant	-	NC_000004.12:g.147542562C>T	gnomAD
rs1156690632	p.Asp411Asn	missense variant	-	NC_000004.12:g.147542565G>A	gnomAD
COSM4833346	p.Gln412Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147542568C>G	NCI-TCGA Cosmic
rs1420008805	p.Asn416Ser	missense variant	-	NC_000004.12:g.147542581A>G	gnomAD
rs776193470	p.Asp418Ala	missense variant	-	NC_000004.12:g.147542587A>C	ExAC
rs200104039	p.Arg419Gln	missense variant	-	NC_000004.12:g.147542590G>A	ExAC,gnomAD
rs761439706	p.Arg419Trp	missense variant	-	NC_000004.12:g.147542589C>T	ExAC,TOPMed,gnomAD
rs200945454	p.Ser420Thr	missense variant	-	NC_000004.12:g.147542593G>C	ExAC,TOPMed,gnomAD
rs200945454	p.Ser420Asn	missense variant	-	NC_000004.12:g.147542593G>A	ExAC,TOPMed,gnomAD
rs1236993316	p.Ser421Asn	missense variant	-	NC_000004.12:g.147542596G>A	gnomAD
rs763257382	p.His422Pro	missense variant	-	NC_000004.12:g.147542599A>C	ExAC,TOPMed,gnomAD
rs1281717406	p.His422Tyr	missense variant	-	NC_000004.12:g.147542598C>T	gnomAD
rs763257382	p.His422Arg	missense variant	-	NC_000004.12:g.147542599A>G	ExAC,TOPMed,gnomAD
rs899115126	p.Lys423Asn	missense variant	-	NC_000004.12:g.147542603G>C	TOPMed
rs1278609613	p.Asp424Tyr	missense variant	-	NC_000004.12:g.147542604G>T	gnomAD
rs1278609613	p.Asp424His	missense variant	-	NC_000004.12:g.147542604G>C	gnomAD
rs1278609613	p.Asp424Asn	missense variant	-	NC_000004.12:g.147542604G>A	gnomAD
rs202195925	p.Ser425Thr	missense variant	-	NC_000004.12:g.147542608G>C	TOPMed
rs1201780967	p.Met426Ile	missense variant	-	NC_000004.12:g.147542612G>A	gnomAD
rs1350558296	p.Met426Val	missense variant	-	NC_000004.12:g.147542610A>G	gnomAD
rs866965609	p.Asn427Ser	missense variant	-	NC_000004.12:g.147542614A>G	gnomAD
rs866965609	p.Asn427Thr	missense variant	-	NC_000004.12:g.147542614A>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001430	Adenoma	group	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0003507	Aortic Valve Stenosis	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003857	Congenital arteriovenous malformation	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004096	Asthma	disease	BEFREE
C0004114	Astrocytoma	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;UNIPROT
C0006826	Malignant Neoplasms	group	BEFREE
C0006870	Cannabis Dependence	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0007133	Carcinoma, Papillary	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE;LHGDN
C0007193	Cardiomyopathy, Dilated	group	BEFREE;LHGDN
C0007222	Cardiovascular Diseases	group	BEFREE
C0007766	Intracranial Aneurysm	disease	BEFREE
C0008497	Choriocarcinoma	disease	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0010417	Cryptorchidism	disease	BEFREE
C0010674	Cystic Fibrosis	disease	BEFREE
C0010823	Cytomegalovirus Infections	group	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE;CTD_human;RGD
C0012754	Distemper	disease	BEFREE
C0013146	Drug abuse	disease	BEFREE
C0015397	Disorder of eye	group	BEFREE
C0017601	Glaucoma	disease	LHGDN
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018213	Graves Disease	disease	BEFREE
C0018681	Headache	phenotype	BEFREE
C0018777	Conductive hearing loss	disease	HPO
C0018798	Congenital Heart Defects	group	BEFREE;CTD_human
C0018801	Heart failure	disease	BEFREE;CTD_human;LHGDN
C0018802	Congestive heart failure	disease	BEFREE;CTD_human
C0019196	Hepatitis C	disease	BEFREE
C0019284	Diaphragmatic Hernia	phenotype	CTD_human
C0019340	Herpes NOS	disease	BEFREE
C0019693	HIV Infections	group	BEFREE
C0020179	Huntington Disease	disease	BEFREE
C0020529	Hypersomnia with Periodic Respiration	disease	RGD
C0020538	Hypertensive disease	group	BEFREE;CTD_human;LHGDN;RGD
C0020541	Hypertension, Portal	disease	RGD
C0020542	Pulmonary Hypertension	phenotype	RGD
C0021100	Bullous impetigo	disease	BEFREE
C0022658	Kidney Diseases	group	BEFREE
C0022680	Polycystic Kidney Diseases	group	LHGDN
C0023212	Left-Sided Heart Failure	disease	CTD_human
C0023267	Fibroid Tumor	group	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023440	Acute Erythroblastic Leukemia	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0024115	Lung diseases	group	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0024809	Marijuana Abuse	disease	BEFREE
C0025007	Measles	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025500	Mesothelioma	disease	BEFREE
C0025517	Metabolic Diseases	group	BEFREE
C0025990	Micrognathism	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE;RGD
C0027404	Narcolepsy	disease	GWASDB
C0027439	Nasopharyngeal Neoplasms	group	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027726	Nephrotic Syndrome	group	RGD
C0027765	nervous system disorder	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028754	Obesity	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0030305	Pancreatitis	disease	LHGDN
C0030517	Parathyroid Diseases	group	BEFREE
C0031511	Pheochromocytoma	disease	BEFREE
C0032002	Pituitary Diseases	group	BEFREE
C0032584	polyps	phenotype	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0033774	Pruritus	phenotype	BEFREE
C0034013	Precocious Puberty	disease	BEFREE
C0035334	Retinitis Pigmentosa	disease	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0036220	Kaposi Sarcoma	disease	BEFREE;LHGDN
C0036337	Schizoaffective Disorder	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0037315	Sleep Apnea Syndromes	group	RGD
C0038165	Staphylococcal Scalded Skin Syndrome	disease	BEFREE
C0038454	Cerebrovascular accident	group	CTD_human
C0038522	Subacute Sclerosing Panencephalitis	disease	BEFREE
C0040136	Thyroid Neoplasm	disease	BEFREE
C0040147	Thyroiditis	disease	BEFREE
C0040433	Tooth Crowding	phenotype	HPO
C0041105	Trismus	disease	HPO
C0042133	Uterine Fibroids	group	BEFREE
C0042373	Vascular Diseases	group	BEFREE
C0085413	Polycystic Kidney, Autosomal Dominant	disease	LHGDN
C0085580	Essential Hypertension	disease	BEFREE
C0149721	Left Ventricular Hypertrophy	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE;CTD_human
C0151445	Primary Raynaud Phenomenon	disease	BEFREE
C0151650	Renal fibrosis	disease	RGD
C0151744	Myocardial Ischemia	disease	LHGDN
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0154723	Migraine with Aura	disease	BEFREE
C0155626	Acute myocardial infarction	disease	BEFREE
C0162283	Nephrogenic Diabetes Insipidus	disease	BEFREE
C0162809	Kallmann Syndrome	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0202236	Triglycerides measurement	phenotype	GWASDB
C0205734	Diabetes, Autoimmune	disease	BEFREE
C0206682	Follicular thyroid carcinoma	disease	BEFREE
C0206683	Papillary and follicular adenocarcinoma	disease	BEFREE
C0220633	Uveal melanoma	disease	BEFREE
C0220659	Acrodysostosis	disease	BEFREE
C0220704	Shprintzen syndrome	disease	MGD
C0234251	Inflammatory pain	phenotype	BEFREE
C0235290	Taste bitter	phenotype	BEFREE
C0235480	Paroxysmal atrial fibrillation	disease	BEFREE
C0235527	Heart Failure, Right-Sided	disease	CTD_human
C0235874	Disease Exacerbation	phenotype	CTD_human
C0238301	Cancer of Nasopharynx	disease	CTD_human
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0239234	Low set ears	phenotype	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0242350	Erectile dysfunction	disease	CTD_human;RGD
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242387	Mandibulofacial Dysostosis	disease	HPO
C0263009	Sclerosis of the skin	disease	BEFREE
C0264657	Renal sclerosis with hypertension	disease	BEFREE
C0268318	Cholestasis of pregnancy	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0338480	Common Migraine	disease	BEFREE
C0338495	Sleep Apnea, Mixed Central and Obstructive	disease	RGD
C0339525	Autosomal dominant retinitis pigmentosa	disease	BEFREE
C0339573	Glaucoma, Primary Open Angle	disease	BEFREE
C0340100	High altitude pulmonary edema	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392164	Pulmonary Cystic Fibrosis	disease	BEFREE
C0395837	Stenosis of external auditory canal	disease	HPO
C0403814	Congenital bilateral aplasia of vas deferens	disease	BEFREE
C0474566	Platelet hematocrit measurement	phenotype	GWASCAT
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0520679	Sleep Apnea, Obstructive	disease	BEFREE;CTD_human
C0520947	Clumsiness - motor delay	disease	BEFREE
C0521158	Recurrent tumor	phenotype	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE
C0553580	Ewings sarcoma	disease	BEFREE
C0576860	Narrowing of ear canal	phenotype	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596240	Cancer Pain	phenotype	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598428	genetic hypertension	disease	BEFREE
C0598608	Hyperhomocysteinemia	disease	RGD
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677607	Hashimoto Disease	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0683382	renin-dependent hypertension	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0700323	Observation of Neuromuscular Block	disease	BEFREE
C0700613	Anxiety state	disease	BEFREE
C0751761	Upper Airway Resistance Sleep Apnea Syndrome	disease	CTD_human
C0751956	Acute Cerebrovascular Accidents	disease	CTD_human
C0856169	Endothelial dysfunction	phenotype	BEFREE
C0856554	Hepatic cancer metastatic	disease	BEFREE
C0858600	Taste sweet	phenotype	BEFREE
C0878544	Cardiomyopathies	group	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE;CTD_human;LHGDN
C0936223	Metastatic Prostate Carcinoma	disease	BEFREE
C0936282	Blastoma	disease	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE;CTD_human
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1258666	Myxoid cyst	disease	LHGDN
C1263846	Attention deficit hyperactivity disorder	disease	BEFREE
C1269683	Major Depressive Disorder	disease	BEFREE
C1279420	Anxiety neurosis (finding)	disease	BEFREE
C1282496	Metastasis from malignant tumor of prostate	disease	BEFREE
C1290398	Cerebral arterial aneurysm	disease	BEFREE
C1292753	Primary Effusion Lymphoma	disease	BEFREE
C1302547	Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma	disease	BEFREE
C1305420	Prominent ear	phenotype	HPO
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306710	Facial asymmetry	phenotype	HPO
C1317785	Tooth size discrepancy	phenotype	HPO
C1337013	Differentiated Thyroid Gland Carcinoma	disease	BEFREE
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1458155	Mammary Neoplasms	group	LHGDN
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1519680	Tumor Immunity	phenotype	BEFREE
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1701938	Associated Pulmonary Arterial Hypertension	disease	BEFREE
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C1839764	Broad flat nasal bridge	phenotype	HPO
C1843300	Sparse eyelashes	phenotype	HPO
C1845447	Cupped ears (finding)	phenotype	HPO
C1847352	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	disease	BEFREE
C1848474	Limited jaw opening	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1849538	Delayed eruption of primary teeth	phenotype	HPO
C1853246	Everted lower lip vermilion	phenotype	HPO
C1855285	Protruding ear	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1865295	Auriculo-condylar syndrome	disease	BEFREE
C1866234	Protruding lower lip	phenotype	HPO
C1956346	Coronary Artery Disease	disease	BEFREE
C1959583	Myocardial Failure	disease	CTD_human
C1961112	Heart Decompensation	phenotype	CTD_human
C2239176	Liver carcinoma	disease	BEFREE
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	HPO
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3489396	Hypogonadism, Isolated Hypogonadotropic	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C3839280	High grade serous carcinoma	disease	BEFREE
C3887485	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1	phenotype	CTD_human
C4020892	Capuchin ears	disease	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4225349	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C4228933	Limited jaw mobility	phenotype	HPO
C4280617	Tooth mass arch size discrepancy	phenotype	HPO
C4280618	Inadequate arch length for tooth size	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280672	Decrease in jaw opening	phenotype	HPO
C4282407	Sparse and thin eyebrow	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004435	phosphatidylinositol phospholipase C activity	TAS
GO:0004962	endothelin receptor activity	NAS
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001569	branching involved in blood vessel morphogenesis	IEA
GO:0001666	response to hypoxia	IEA
GO:0001701	in utero embryonic development	IEA
GO:0006939	smooth muscle contraction	NAS
GO:0007165	signal transduction	TAS
GO:0007186	G protein-coupled receptor signaling pathway	NAS
GO:0007186	G protein-coupled receptor signaling pathway	TAS
GO:0007190	activation of adenylate cyclase activity	TAS
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007202	activation of phospholipase C activity	TAS
GO:0007204	positive regulation of cytosolic calcium ion concentration	TAS
GO:0007507	heart development	IEA
GO:0007585	respiratory gaseous exchange by respiratory system	ISS
GO:0008217	regulation of blood pressure	IEA
GO:0008283	cell population proliferation	TAS
GO:0010827	regulation of glucose transmembrane transport	IEA
GO:0014032	neural crest cell development	IEA
GO:0014824	artery smooth muscle contraction	IMP
GO:0042310	vasoconstriction	IMP
GO:0048484	enteric nervous system development	IEA
GO:0060322	head development	IEA
GO:0086100	endothelin receptor signaling pathway	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-373076	Class A/1 (Rhodopsin-like receptors)	TAS
R-HSA-375276	Peptide ligand-binding receptors	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-416476	G alpha (q) signalling events	TAS
R-HSA-500792	GPCR ligand binding	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C095653	1,5-dihydroxyisoquinoline	1,5-dihydroxyisoquinoline results in decreased expression of EDNRA mRNA	12824290
C040168	19-oxo-11-deoxycorticosterone acetate	[19-oxo-11-deoxycorticosterone acetate co-treated with Potassium Chloride co-treated with Sodium Chloride] affects the activity of EDNRA protein	18516094
C087551	1H-Indene-2-carboxylic acid, 1-(1,3-benzodioxol-5-yl)-3-(2- (carboxymethoxy)-4-methoxyphenyl)-2,3-dihydro-5-propoxy-, (1S,2R,3S)-	1H-Indene-2-carboxylic acid, 1-(1,3-benzodioxol-5-yl)-3-(2- (carboxymethoxy)-4-methoxyphenyl)-2,3-dihydro-5-propoxy-, (1S,2R,3S)- binds to and results in decreased activity of EDNRA protein	14687651
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of EDNRA mRNA	27291303
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter results in increased expression of EDNRA mRNA]	20561571
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	20561571
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of EDNRA mRNA	19114083
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of EDNRA mRNA	20406850
D015081	2-Naphthylamine	2-Naphthylamine results in decreased expression of EDNRA mRNA	18247414
C402306	3,5-dibromosalicylic acid	3,5-dibromosalicylic acid inhibits the reaction [Bosentan inhibits the reaction [EDN1 protein binds to EDNRA protein]]	11093786
C402306	3,5-dibromosalicylic acid	3,5-dibromosalicylic acid inhibits the reaction [cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [EDN1 protein binds to EDNRA protein]]	11093786
C402306	3,5-dibromosalicylic acid	3,5-dibromosalicylic acid inhibits the reaction [EDN1 protein binds to EDNRA protein]	11093786
C020891	3,5-diiodosalicylic acid	3,5-diiodosalicylic acid inhibits the reaction [EDN1 protein binds to EDNRA protein]	11093786
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 EDNRA 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 EDNRA 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 EDNRA 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 EDNRA 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 EDNRA 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 EDNRA mRNA	27188386
C400084	4-chlorobenzyltetrahydroberberine	4-chlorobenzyltetrahydroberberine inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA mRNA]	23270704
C400084	4-chlorobenzyltetrahydroberberine	4-chlorobenzyltetrahydroberberine inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA protein]	23270704
C085754	5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide	[5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide binds to and results in decreased activity of EDNRA protein] inhibits the reaction [Desoxycorticosterone results in increased chemical synthesis of Reactive Oxygen Species]	16271043
C085754	5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide	[5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide binds to and results in decreased activity of EDNRA protein] which results in decreased expression of NOS2 protein	16271043
C085754	5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide	[5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide binds to and results in decreased activity of EDNRA protein] which results in increased expression of SOD2 protein	16271043
C085754	5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide	5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide binds to and results in decreased activity of EDNRA protein	15477225; 16271043;
C489251	5-iodo-3-((3,5-dibromo-4-hydroxyphenyl)methylene)-2-indolinone	5-iodo-3-((3,5-dibromo-4-hydroxyphenyl)methylene)-2-indolinone inhibits the reaction [Tobacco Smoke Pollution results in increased expression of EDNRA mRNA]	22952915
C489251	5-iodo-3-((3,5-dibromo-4-hydroxyphenyl)methylene)-2-indolinone	5-iodo-3-((3,5-dibromo-4-hydroxyphenyl)methylene)-2-indolinone inhibits the reaction [Tobacco Smoke Pollution results in increased expression of EDNRA protein]	22952915
C467893	A 182086	A 182086 binds to and results in decreased activity of EDNRA protein	12875994
C095427	A 86929	A 86929 binds to EDNRA protein	8558425
C496492	abrine	abrine results in decreased expression of EDNRA mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of EDNRA mRNA	29067470
C056165	acetovanillone	acetovanillone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA mRNA]	23270704
C056165	acetovanillone	acetovanillone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA protein]	23270704
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of EDNRA gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of EDNRA exon	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of EDNRA exon	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of EDNRA intron	30157460
D000450	Aldosterone	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] inhibits the reaction [Aldosterone results in increased expression of IL18 mRNA]	18660453
D000450	Aldosterone	[EDN1 protein binds to and results in increased activity of EDNRA protein] promotes the reaction [Aldosterone results in increased expression of IL18 mRNA]	18660453
D000496	Alloxan	Alloxan results in increased expression of EDNRA mRNA	12605241
D000496	Alloxan	Alloxan results in increased expression of EDNRA protein	12605241
C467894	ambrisentan	ambrisentan binds to and results in decreased activity of EDNRA protein	16219361
C467894	ambrisentan	ambrisentan results in decreased expression of EDNRA mRNA	16364719
C467894	ambrisentan	ambrisentan binds to and results in decreased activity of EDNRA protein	16364719
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of EDNRA mRNA	24449571
D001151	Arsenic	Arsenic affects the expression of EDNRA mRNA	19654921
D000069059	Atorvastatin	Atorvastatin promotes the reaction [Losartan results in decreased expression of EDNRA mRNA]	23091284
D000069059	Atorvastatin	Atorvastatin results in decreased expression of EDNRA mRNA	23091284
D000069059	Atorvastatin	Losartan promotes the reaction [Atorvastatin results in decreased expression of EDNRA mRNA]	23091284
D000077868	Atrasentan	Atrasentan binds to and results in decreased activity of EDNRA protein	12193141; 15165288; 16219361;
D000077868	Atrasentan	Atrasentan binds to and results in decreased activity of EDNRA protein	18516094
D000077868	Atrasentan	Atrasentan binds to and results in decreased activity of EDNRA protein	10877991; 11994508; 12600921; 15371886; 19326569; 21275367; 22431579;
D000077868	Atrasentan	[Atrasentan binds to and results in decreased activity of EDNRA protein] inhibits the reaction [EDN1 protein results in increased abundance of Superoxides]	12600921
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of EDNRA mRNA	29950665
C487081	belinostat	belinostat results in increased expression of EDNRA 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 EDNRA mRNA	27188386
C044946	benazepril	benazepril inhibits the reaction [Streptozocin results in increased expression of EDNRA mRNA]	15015294
C061004	benidipine	benidipine results in decreased expression of EDNRA protein	16387788
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EDNRA mRNA	18247414
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EDNRA mRNA	22228805
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of EDNRA mRNA	30951980
C006780	bisphenol A	[bisphenol A co-treated with Tretinoin] results in decreased expression of EDNRA mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of EDNRA mRNA	26063408; 30951980;
C006780	bisphenol A	bisphenol A affects the expression of EDNRA mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of EDNRA mRNA	30951980
D000077300	Bosentan	Bosentan binds to and results in decreased activity of EDNRA protein	15334381
D000077300	Bosentan	Bosentan binds to and results in decreased activity of EDNRA protein	9811577
D000077300	Bosentan	Bosentan binds to and results in decreased activity of EDNRA protein	16219361
D000077300	Bosentan	3,5-dibromosalicylic acid inhibits the reaction [Bosentan inhibits the reaction [EDN1 protein binds to EDNRA protein]]	11093786
D000077300	Bosentan	Bosentan binds to and results in decreased activity of EDNRA protein	15964565
D000077300	Bosentan	Bosentan inhibits the reaction [EDN1 protein binds to EDNRA protein]	11093786
D000077300	Bosentan	Bosentan binds to and results in decreased activity of EDNRA protein	10796056; 11922906; 15093706; 16335785; 16700825; 16741059; 17234519; 20967148; 22483689; 7828305; 8572876; 8587695; 8604712; 8794820; 9052893;
C083116	BQ 485	[BQ 485 binds to and results in decreased activity of EDNRA protein] which results in decreased expression of BCL2 protein	14736733
C083116	BQ 485	BQ 485 binds to and results in decreased activity of EDNRA protein	14736733; 15093706; 15357834; 16391241;
C083116	BQ 485	[BQ 485 binds to and results in decreased activity of EDNRA protein] inhibits the reaction [EDN1 protein results in decreased susceptibility to Doxorubicin]	14736733
C087220	BQ 610	BQ 610 binds to and results in decreased activity of EDNRA protein	15245872; 16023617; 16280098; 16391412; 23650128;
C405519	BSF 302146	BSF 302146 binds to and results in decreased activity of EDNRA protein	15754391
C405519	BSF 302146	BSF 302146 binds to and results in decreased activity of EDNRA protein	15838271
D002118	Calcium	Calcium affects the activity of EDNRA protein	12628492
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of EDNRA mRNA	17484886
D002330	Carmustine	EDNRA mRNA affects the susceptibility to Carmustine	16365179
D000068579	Celecoxib	Celecoxib inhibits the reaction [Cyclosporine results in increased expression of EDNRA protein]	25656942
D002791	Cholesterol, Dietary	Cholesterol, Dietary results in increased expression of EDNRA mRNA	19505368
D002791	Cholesterol, Dietary	Cholesterol, Dietary results in increased expression of EDNRA protein	19505368
D002791	Cholesterol, Dietary	CPU0213 inhibits the reaction [Cholesterol, Dietary results in increased expression of EDNRA mRNA]	19505368
D002791	Cholesterol, Dietary	CPU0213 inhibits the reaction [Cholesterol, Dietary results in increased expression of EDNRA protein]	19505368
D002791	Cholesterol, Dietary	Simvastatin inhibits the reaction [Cholesterol, Dietary results in increased expression of EDNRA mRNA]	19505368
D002791	Cholesterol, Dietary	Simvastatin inhibits the reaction [Cholesterol, Dietary results in increased expression of EDNRA protein]	19505368
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of EDNRA mRNA	28472532
D002945	Cisplatin	EDNRA protein affects the susceptibility to Cisplatin	17032313
C109641	clazosentan	clazosentan binds to and results in decreased activity of EDNRA protein	16219361
D003042	Cocaine	Cocaine results in increased expression of EDNRA protein	18813882
D003042	Cocaine	Cocaine results in increased expression of EDNRA protein	17420087
C513821	CPU0213	CPU0213 inhibits the reaction [Cholesterol, Dietary results in increased expression of EDNRA mRNA]	19505368
C513821	CPU0213	CPU0213 inhibits the reaction [Cholesterol, Dietary results in increased expression of EDNRA protein]	19505368
C513821	CPU0213	CPU0213 inhibits the reaction [Isoproterenol results in increased expression of EDNRA mRNA]	18594475; 20307649;
C513821	CPU0213	CPU0213 inhibits the reaction [Isoproterenol results in increased expression of EDNRA protein]	20307649
D003471	Cuprizone	Cuprizone results in increased expression of EDNRA mRNA	27523638
D003513	Cycloheximide	Cycloheximide inhibits the reaction [Particulate Matter results in increased expression of EDNRA mRNA]	20561571
D003513	Cycloheximide	Cycloheximide inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	20561571
D003513	Cycloheximide	[Dimethyl Sulfoxide co-treated with Cycloheximide] results in decreased expression of EDNRA mRNA	20561571
D003513	Cycloheximide	[Dimethyl Sulfoxide co-treated with Cycloheximide] results in decreased expression of EDNRA protein	20561571
D016572	Cyclosporine	Celecoxib inhibits the reaction [Cyclosporine results in increased expression of EDNRA protein]	25656942
D016572	Cyclosporine	Cyclosporine results in increased expression of EDNRA protein	25656942
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein	11535565
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) results in decreased activity of EDNRA protein	18813882
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein	15072961
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	3,5-dibromosalicylic acid inhibits the reaction [cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [EDN1 protein binds to EDNRA protein]]	11093786
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein	16151434; 18516097;
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] affects the reaction [Doxorubicin results in increased activity of CASP3 protein]	14736733
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] inhibits the reaction [Aldosterone results in increased expression of IL18 mRNA]	18660453
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] which results in decreased expression of BCL2 protein	14736733
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] which results in decreased susceptibility to Norepinephrine	15834289
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] which results in decreased susceptibility to Phenylephrine	15007106
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [EDN1 protein binds to EDNRA protein]	11093786
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein	10796056; 12363203; 12686472; 12700883; 14736733; 15334381; 15464066; 15680467; 15834289; 15861262; 16327016; 16327149; 16335286; 17414428; 18660453; 19429182; 8572876;
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] inhibits the reaction [EDN1 protein results in decreased susceptibility to Doxorubicin]	14736733
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) results in decreased activity of EDNRA protein	15605384; 15685554; 21907185;
D003609	Dactinomycin	Dactinomycin inhibits the reaction [Particulate Matter results in increased expression of EDNRA mRNA]	20561571
D003609	Dactinomycin	Dactinomycin inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	20561571
D003609	Dactinomycin	[Dimethyl Sulfoxide co-treated with Dactinomycin] results in decreased expression of EDNRA mRNA	20561571
D003609	Dactinomycin	[Dimethyl Sulfoxide co-treated with Dactinomycin] results in decreased expression of EDNRA protein	20561571
C107831	darusentan	darusentan binds to and results in decreased activity of EDNRA protein	11181473; 16219361;
D003630	Daunorubicin	Daunorubicin results in increased expression of EDNRA protein	20888384
D003630	Daunorubicin	Telmisartan inhibits the reaction [Daunorubicin results in increased expression of EDNRA protein]	20888384
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of EDNRA mRNA	23640034
D003900	Desoxycorticosterone	[5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide binds to and results in decreased activity of EDNRA protein] inhibits the reaction [Desoxycorticosterone results in increased chemical synthesis of Reactive Oxygen Species]	16271043
D003900	Desoxycorticosterone	[Desoxycorticosterone co-treated with Sodium Chloride] results in increased expression of EDNRA protein	22431579
D003900	Desoxycorticosterone	EDNRA protein affects the susceptibility to Desoxycorticosterone	12600921
D003907	Dexamethasone	Dexamethasone results in decreased expression of EDNRA mRNA	22733784
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of EDNRA mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of EDNRA mRNA	17361019
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of EDNRA mRNA	21266533
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of EDNRA mRNA	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of EDNRA mRNA	20920545
C058705	diethyl malate	diethyl malate affects the expression of EDNRA mRNA	24814887
D004121	Dimethyl Sulfoxide	[Dimethyl Sulfoxide co-treated with Cycloheximide] results in decreased expression of EDNRA mRNA	20561571
D004121	Dimethyl Sulfoxide	[Dimethyl Sulfoxide co-treated with Cycloheximide] results in decreased expression of EDNRA protein	20561571
D004121	Dimethyl Sulfoxide	[Dimethyl Sulfoxide co-treated with Dactinomycin] results in decreased expression of EDNRA mRNA	20561571
D004121	Dimethyl Sulfoxide	[Dimethyl Sulfoxide co-treated with Dactinomycin] results in decreased expression of EDNRA protein	20561571
D015237	Dinoprost	Dinoprost results in decreased expression of EDNRA mRNA	20484870
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 EDNRA 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 EDNRA 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 EDNRA 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 EDNRA 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 EDNRA 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 EDNRA mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of EDNRA mRNA	28940058; 29803840;
D004317	Doxorubicin	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] affects the reaction [Doxorubicin results in increased activity of CASP3 protein]	14736733
D004317	Doxorubicin	[BQ 485 binds to and results in decreased activity of EDNRA protein] inhibits the reaction [EDN1 protein results in decreased susceptibility to Doxorubicin]	14736733
D004317	Doxorubicin	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] inhibits the reaction [EDN1 protein results in decreased susceptibility to Doxorubicin]	14736733
D013759	Dronabinol	Dronabinol results in increased expression of EDNRA mRNA	16616335
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal inhibits the reaction [Streptozocin results in increased expression of EDNRA mRNA]	15015294
D004726	Endosulfan	Endosulfan results in increased expression of EDNRA mRNA	29391264
C098288	enrasentan	enrasentan binds to and results in decreased activity of EDNRA protein	16219361
D004958	Estradiol	Estradiol results in increased expression of EDNRA mRNA	19943105
D004958	Estradiol	Tamoxifen inhibits the reaction [Estradiol results in increased expression of EDNRA mRNA]	19943105
D000431	Ethanol	Ethanol affects the expression of EDNRA mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of EDNRA mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of EDNRA mRNA	23129252
D005472	Fluorouracil	EDNRA protein affects the susceptibility to Fluorouracil	17032313
D000077340	Fluvastatin	Fluvastatin results in decreased expression of EDNRA mRNA	28951255
C079574	FR 139317	FR 139317 binds to and results in decreased activity of EDNRA protein	21259319
C079574	FR 139317	FR 139317 binds to and results in decreased activity of EDNRA protein	10877991; 11028503; 9175058;
D005632	Fructose	Fructose results in increased expression of EDNRA mRNA	14568997; 9869011;
D005632	Fructose	KLK1 protein inhibits the reaction [Fructose results in increased expression of EDNRA mRNA]	14568997
D000077267	Fulvestrant	[Fulvestrant co-treated with Tamoxifen co-treated with ZD4054] results in decreased expression of EDNRA mRNA	19943105
C039281	furan	furan results in decreased expression of EDNRA mRNA	25539665
C039281	furan	furan results in increased expression of EDNRA mRNA	27387713
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in decreased expression of EDNRA mRNA	29522793
C074308	IRL 1620	EDNRA protein affects the susceptibility to IRL 1620	18823320
D007545	Isoproterenol	Isoproterenol results in increased expression of EDNRA mRNA	20003209
D007545	Isoproterenol	CPU0213 inhibits the reaction [Isoproterenol results in increased expression of EDNRA mRNA]	18594475; 20307649;
D007545	Isoproterenol	CPU0213 inhibits the reaction [Isoproterenol results in increased expression of EDNRA protein]	20307649
D007545	Isoproterenol	Isoproterenol results in increased expression of EDNRA mRNA	18594475; 20307649;
D007545	Isoproterenol	Isoproterenol results in increased expression of EDNRA protein	20307649; 27174236;
D007545	Isoproterenol	natakalim inhibits the reaction [Isoproterenol results in increased expression of EDNRA protein]	27174236
D007545	Isoproterenol	pimagedine inhibits the reaction [Isoproterenol results in increased expression of EDNRA mRNA]	18594475
C119319	J 104132	J 104132 binds to EDNRA protein	11483691
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of EDNRA mRNA	24796395
D007657	Ketone Bodies	Ketone Bodies results in decreased expression of EDNRA mRNA	16807920
D019808	Losartan	Atorvastatin promotes the reaction [Losartan results in decreased expression of EDNRA mRNA]	23091284
D019808	Losartan	Losartan promotes the reaction [Atorvastatin results in decreased expression of EDNRA mRNA]	23091284
D019808	Losartan	Losartan results in decreased expression of EDNRA mRNA	23091284
C113044	LU 224332	LU 224332 binds to and results in decreased activity of EDNRA protein	15754391
C113044	LU 224332	LU 224332 binds to and results in decreased activity of EDNRA protein	15838271
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of EDNRA mRNA	28001369
C008493	methylselenic acid	methylselenic acid results in increased expression of EDNRA mRNA	18548127
D015735	Mifepristone	Mifepristone results in decreased expression of EDNRA mRNA	25972201
D016686	Monocrotaline	Monocrotaline results in increased expression of EDNRA mRNA	20967148; 22022327;
D016686	Monocrotaline	Simvastatin inhibits the reaction [Monocrotaline results in increased expression of EDNRA mRNA]	22022327
C470655	N-((2'-(((4,5-dimethyl-3-isoxazolyl)amino)sulfonyl)-4-(2-oxazolyl)(1,1'-biphenyl)-2-yl)methyl)-N,3,3-trimethylbutanamide	N-((2'-(((4,5-dimethyl-3-isoxazolyl)amino)sulfonyl)-4-(2-oxazolyl)(1,1'-biphenyl)-2-yl)methyl)-N,3,3-trimethylbutanamide binds to and results in decreased activity of EDNRA protein	16219361
C485107	N-(2-acetyl-4,6-dimethylphenyl)-3-(3,4-dimethylisoxazol-5-ylsulfamoyl)thiophene-2-carboxamide	N-(2-acetyl-4,6-dimethylphenyl)-3-(3,4-dimethylisoxazol-5-ylsulfamoyl)thiophene-2-carboxamide binds to and results in decreased activity of EDNRA protein	16219361
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of EDNRA mRNA	25511174
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of EDNRA mRNA	25620056
C556401	natakalim	natakalim inhibits the reaction [Isoproterenol results in increased expression of EDNRA protein]	27174236
C556401	natakalim	natakalim results in decreased expression of EDNRA protein	25215478
D009538	Nicotine	Nicotine results in decreased expression of EDNRA mRNA	18247414
C007350	nitrofen	nitrofen results in decreased expression of EDNRA mRNA	12407540
C007350	nitrofen	nitrofen results in increased expression of EDNRA mRNA	10693666; 19851775; 9473106;
C007350	nitrofen	nitrofen results in increased expression of EDNRA protein	19851775
D009638	Norepinephrine	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] which results in decreased susceptibility to Norepinephrine	15834289
D010042	Ouabain	Ouabain results in increased expression of EDNRA mRNA	15477225; 16982439;
D010042	Ouabain	Ouabain results in increased expression of EDNRA protein	16982439
D010100	Oxygen	Oxygen deficiency results in increased expression of EDNRA mRNA	21926265
D010100	Oxygen	Oxygen deficiency results in increased expression of EDNRA protein	21926265
D010100	Oxygen	Oxygen results in increased expression of EDNRA mRNA	25203536
D010100	Oxygen	Rosiglitazone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA mRNA]	21926265
D010100	Oxygen	Rosiglitazone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA protein]	21926265
D010100	Oxygen	4-chlorobenzyltetrahydroberberine inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA mRNA]	23270704
D010100	Oxygen	4-chlorobenzyltetrahydroberberine inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA protein]	23270704
D010100	Oxygen	acetovanillone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA mRNA]	23270704
D010100	Oxygen	acetovanillone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA protein]	23270704
D010100	Oxygen	Oxygen deficiency results in increased expression of EDNRA mRNA	23270704
D010100	Oxygen	Oxygen deficiency results in increased expression of EDNRA protein	23270704; 28985491;
D010100	Oxygen	tanshinone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA protein]	28985491
D010126	Ozone	Ozone results in decreased expression of EDNRA mRNA	16081523
D010126	Ozone	Ozone results in increased expression of EDNRA mRNA	20980218
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 EDNRA mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of EDNRA mRNA	26272509
D010269	Paraquat	Paraquat affects the expression of EDNRA mRNA	16854511
D052638	Particulate Matter	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter results in increased expression of EDNRA mRNA]	20561571
D052638	Particulate Matter	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	20561571
D052638	Particulate Matter	Cycloheximide inhibits the reaction [Particulate Matter results in increased expression of EDNRA mRNA]	20561571
D052638	Particulate Matter	Cycloheximide inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	20561571
D052638	Particulate Matter	Dactinomycin inhibits the reaction [Particulate Matter results in increased expression of EDNRA mRNA]	20561571
D052638	Particulate Matter	Dactinomycin inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	20561571
D052638	Particulate Matter	Particulate Matter results in increased expression of EDNRA mRNA	26496744
D052638	Particulate Matter	Particulate Matter results in increased expression of EDNRA protein	20561571; 26496744;
D052638	Particulate Matter	pyrazolanthrone inhibits the reaction [Particulate Matter results in increased expression of EDNRA mRNA]	20561571
D052638	Particulate Matter	pyrazolanthrone inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	20561571
D052638	Particulate Matter	U 0126 inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	26496744
C082887	PD 145065	PD 145065 binds to and results in decreased activity of EDNRA protein	17578707
C087850	PD 151242	PD 151242 binds to and results in decreased activity of EDNRA protein	12363203
C106950	PD 156252	PD 156252 binds to and results in decreased activity of EDNRA protein	11751199
C093321	PD 156707	PD 156707 binds to and results in decreased activity of EDNRA protein	11509453
C093321	PD 156707	PD 156707 binds to EDNRA protein	21275367
D010656	Phenylephrine	[cyclo(Trp-Asp-Pro-Val-Leu) binds to and results in decreased activity of EDNRA protein] which results in decreased susceptibility to Phenylephrine	15007106
D010656	Phenylephrine	phosphoramidon inhibits the reaction [Phenylephrine results in increased expression of EDNRA protein]	15007106
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 EDNRA mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of EDNRA mRNA	26272509
C008890	phosphoramidon	phosphoramidon inhibits the reaction [AGT protein results in increased expression of EDNRA protein]	15007106
C008890	phosphoramidon	phosphoramidon inhibits the reaction [Phenylephrine results in increased expression of EDNRA protein]	15007106
D010795	Phthalic Acids	Phthalic Acids results in increased expression of EDNRA mRNA	21061450
C004479	pimagedine	pimagedine inhibits the reaction [Isoproterenol results in increased expression of EDNRA mRNA]	18594475
C006253	pirinixic acid	pirinixic acid results in decreased expression of EDNRA mRNA	16985257
D011189	Potassium Chloride	[19-oxo-11-deoxycorticosterone acetate co-treated with Potassium Chloride co-treated with Sodium Chloride] affects the activity of EDNRA protein	18516094
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of EDNRA mRNA	23608068
D011374	Progesterone	Progesterone results in decreased expression of EDNRA mRNA	21795739
D011441	Propylthiouracil	Propylthiouracil results in increased expression of EDNRA mRNA	24780913; 25825206;
C043680	ptaquiloside	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of EDNRA mRNA	23274088
D011692	Puromycin Aminonucleoside	Puromycin Aminonucleoside results in increased expression of EDNRA mRNA	12972712
C432165	pyrazolanthrone	pyrazolanthrone inhibits the reaction [Particulate Matter results in increased expression of EDNRA mRNA]	20561571
C432165	pyrazolanthrone	pyrazolanthrone inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	20561571
D011791	Quartz	Quartz results in decreased expression of EDNRA mRNA	27917503
C502851	quinocetone	quinocetone results in increased expression of EDNRA mRNA	27046791
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR1 protein] results in increased expression of EDNRA mRNA	19059307
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in decreased expression of EDNRA mRNA	19059307
D017382	Reactive Oxygen Species	[5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide binds to and results in decreased activity of EDNRA protein] inhibits the reaction [Desoxycorticosterone results in increased chemical synthesis of Reactive Oxygen Species]	16271043
D000077154	Rosiglitazone	Rosiglitazone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA mRNA]	21926265
D000077154	Rosiglitazone	Rosiglitazone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA protein]	21926265
C057354	sarafotoxins s6	sarafotoxins s6 binds to and results in increased activity of EDNRA protein	15245872
D012643	Selenium	[Selenium co-treated with Vitamin E] results in increased expression of EDNRA mRNA	19244175
D012643	Selenium	Selenium results in decreased expression of EDNRA mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of EDNRA mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of EDNRA mRNA	25351596
D019821	Simvastatin	Simvastatin inhibits the reaction [Cholesterol, Dietary results in increased expression of EDNRA mRNA]	19505368
D019821	Simvastatin	Simvastatin inhibits the reaction [Cholesterol, Dietary results in increased expression of EDNRA protein]	19505368
D019821	Simvastatin	Simvastatin inhibits the reaction [Monocrotaline results in increased expression of EDNRA mRNA]	22022327
C106276	sitaxsentan	sitaxsentan binds to and results in decreased activity of EDNRA protein	16219361
C106276	sitaxsentan	sitaxsentan binds to and results in decreased activity of EDNRA protein	12388107; 17234519;
D012906	Smoke	Smoke results in increased expression of EDNRA mRNA	21095227
C017947	sodium arsenite	EDNRA protein affects the reaction [sodium arsenite results in decreased expression of PLIN1 protein]	23650128
C017947	sodium arsenite	sodium arsenite results in decreased expression of and affects the splicing of EDNRA mRNA	25879800
D012965	Sodium Chloride	[19-oxo-11-deoxycorticosterone acetate co-treated with Potassium Chloride co-treated with Sodium Chloride] affects the activity of EDNRA protein	18516094
D012965	Sodium Chloride	[Desoxycorticosterone co-treated with Sodium Chloride] results in increased expression of EDNRA protein	22431579
D018038	Sodium Selenite	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of EDNRA mRNA	23274088
D013311	Streptozocin	benazepril inhibits the reaction [Streptozocin results in increased expression of EDNRA mRNA]	15015294
D013311	Streptozocin	Drugs, Chinese Herbal inhibits the reaction [Streptozocin results in increased expression of EDNRA mRNA]	15015294
D013311	Streptozocin	Streptozocin results in increased expression of EDNRA mRNA	15015294
D000077210	Sunitinib	Sunitinib results in decreased expression of EDNRA mRNA	31533062
D013481	Superoxides	EDNRA protein affects the abundance of Superoxides	12600921
D013481	Superoxides	[Atrasentan binds to and results in decreased activity of EDNRA protein] inhibits the reaction [EDN1 protein results in increased abundance of Superoxides]	12600921
D016559	Tacrolimus	Tacrolimus results in increased activity of EDNRA protein	15964565
D016559	Tacrolimus	Tacrolimus results in increased expression of EDNRA mRNA	8587392
C088196	TAK 044	TAK 044 binds to and results in decreased activity of EDNRA protein	11327643
D013629	Tamoxifen	[Fulvestrant co-treated with Tamoxifen co-treated with ZD4054] results in decreased expression of EDNRA mRNA	19943105
D013629	Tamoxifen	[Tamoxifen co-treated with ESR1 protein] results in increased expression of EDNRA mRNA	19059307
D013629	Tamoxifen	[Tamoxifen co-treated with ESR2 protein] results in decreased expression of EDNRA mRNA	19059307
D013629	Tamoxifen	Tamoxifen inhibits the reaction [Estradiol results in increased expression of EDNRA mRNA]	19943105
D013629	Tamoxifen	Tamoxifen results in increased expression of EDNRA mRNA	19943105
C021751	tanshinone	tanshinone inhibits the reaction [Oxygen deficiency results in increased expression of EDNRA protein]	28985491
C424912	TBC 3214	TBC 3214 binds to and results in decreased activity of EDNRA protein	15580650
D000077333	Telmisartan	Telmisartan inhibits the reaction [Daunorubicin results in increased expression of EDNRA protein]	20888384
D000077204	Temozolomide	EDNRA mRNA affects the susceptibility to Temozolomide	16365179
D013739	Testosterone	Testosterone affects the expression of EDNRA mRNA	12122504; 14616470;
C004648	testosterone enanthate	testosterone enanthate affects the expression of EDNRA mRNA	17440010
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of EDNRA mRNA	26290441
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of EDNRA mRNA	25975270
C120582	tezosentan	tezosentan binds to and results in decreased activity of EDNRA protein	16219361
C120582	tezosentan	tezosentan binds to and results in decreased activity of EDNRA protein	16181825; 16327003; 16339822; 16625121;
C009495	titanium dioxide	titanium dioxide affects the expression of EDNRA mRNA	23557971
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of EDNRA mRNA	29950665
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of EDNRA mRNA	28065790
D014028	Tobacco Smoke Pollution	5-iodo-3-((3,5-dibromo-4-hydroxyphenyl)methylene)-2-indolinone inhibits the reaction [Tobacco Smoke Pollution results in increased expression of EDNRA mRNA]	22952915
D014028	Tobacco Smoke Pollution	5-iodo-3-((3,5-dibromo-4-hydroxyphenyl)methylene)-2-indolinone inhibits the reaction [Tobacco Smoke Pollution results in increased expression of EDNRA protein]	22952915
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of EDNRA mRNA	22952915; 27212444;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of EDNRA protein	22952915; 27212444;
D014028	Tobacco Smoke Pollution	U 0126 inhibits the reaction [Tobacco Smoke Pollution results in increased expression of EDNRA mRNA]	27212444
D014028	Tobacco Smoke Pollution	U 0126 inhibits the reaction [Tobacco Smoke Pollution results in increased expression of EDNRA protein]	27212444
D014212	Tretinoin	Tretinoin results in increased expression of EDNRA mRNA	18230668
D014212	Tretinoin	Tretinoin results in decreased expression of EDNRA mRNA	23724009
D014212	Tretinoin	Tretinoin results in increased expression of EDNRA mRNA	21934132
D014212	Tretinoin	[bisphenol A co-treated with Tretinoin] results in decreased expression of EDNRA mRNA	30951980
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of EDNRA gene	27618143
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 EDNRA mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of EDNRA mRNA	24935251; 26272509;
C012589	trichostatin A	trichostatin A results in decreased expression of EDNRA mRNA	15901671
D014260	Triclosan	Triclosan results in decreased expression of EDNRA mRNA	30510588
C113580	U 0126	U 0126 inhibits the reaction [Particulate Matter results in increased expression of EDNRA protein]	26496744
C113580	U 0126	U 0126 inhibits the reaction [Tobacco Smoke Pollution results in increased expression of EDNRA mRNA]	27212444
C113580	U 0126	U 0126 inhibits the reaction [Tobacco Smoke Pollution results in increased expression of EDNRA protein]	27212444
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 EDNRA mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of EDNRA mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of EDNRA mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of EDNRA mRNA	23179753; 24383497; 24935251; 26272509;
D014635	Valproic Acid	Valproic Acid results in increased expression of EDNRA mRNA	24896083
D014635	Valproic Acid	Valproic Acid results in decreased expression of EDNRA mRNA	15901671
D000068756	Valsartan	Valsartan results in decreased expression of EDNRA mRNA	28951255
D001335	Vehicle Emissions	Vehicle Emissions results in increased expression of EDNRA mRNA	20980218
C025643	vinclozolin	vinclozolin affects the expression of EDNRA mRNA	19015723
C025643	vinclozolin	vinclozolin results in increased expression of EDNRA mRNA	20566332
D014810	Vitamin E	[Selenium co-treated with Vitamin E] results in increased expression of EDNRA mRNA	19244175
D014810	Vitamin E	Vitamin E results in decreased expression of EDNRA mRNA	19244175
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 EDNRA mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of EDNRA mRNA	26272509
C415840	ZD 2574	ZD 2574 binds to and results in decreased activity of EDNRA protein	11046091
C511404	ZD4054	[Fulvestrant co-treated with Tamoxifen co-treated with ZD4054] results in decreased expression of EDNRA mRNA	19943105

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR000499	Endthln_rcpt
IPR002175	ETA_rcpt
IPR000276	GPCR_Rhodpsn
IPR017452	GPCR_Rhodpsn_7TM

PROSITE

PROSITE ID	PROSITE Term
PS00237	G_PROTEIN_RECEP_F1_1
PS50262	G_PROTEIN_RECEP_F1_2

Pfam

Pfam ID	Pfam Term
PF00001	7tm_1

Gene: EDNRA

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

There is no related protein structure for this gene.

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