EDN3 (endothelin 3)

Gene

• Entrez ID: 1908
• Gene name: Endothelin 3
• Gene symbol: EDN3
• Synonyms (NCBI Gene): ET-3, ET3, HSCR4, PPET3, WS4B
• Disease Acronyms (UniProt): HSCR4, WS4B
• Chromosome: 20
• Chromosome location: 20q13.32
• Summary: The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the pre

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11570344	A>-,AA	Likely-pathogenic, pathogenic, benign-likely-benign, likely-benign	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs11570351	G>A	Risk-factor, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs74315384	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs74315385	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs267606778	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs267606779	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs745795470	C>A	Likely-benign, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs773779627	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs977075341	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1568823467	->G	Risk-factor	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568823517	GC>T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT495210	hsa-miR-4668-3p	PAR-CLIP	23708386
MIRT495208	hsa-miR-4282	PAR-CLIP	23708386
MIRT495209	hsa-miR-605-5p	PAR-CLIP	23708386
MIRT495207	hsa-miR-3606-3p	PAR-CLIP	23708386
MIRT495206	hsa-miR-513a-3p	PAR-CLIP	23708386
MIRT495205	hsa-miR-513c-3p	PAR-CLIP	23708386
MIRT495204	hsa-miR-8063	PAR-CLIP	23708386
MIRT495203	hsa-miR-6728-3p	PAR-CLIP	23708386
MIRT495202	hsa-miR-4769-3p	PAR-CLIP	23708386
MIRT495201	hsa-miR-6817-5p	PAR-CLIP	23708386
MIRT495200	hsa-miR-3191-5p	PAR-CLIP	23708386
MIRT495199	hsa-miR-4727-5p	PAR-CLIP	23708386
MIRT495198	hsa-miR-4768-5p	PAR-CLIP	23708386
MIRT495197	hsa-miR-6833-3p	PAR-CLIP	23708386
MIRT495196	hsa-miR-6809-3p	PAR-CLIP	23708386
MIRT495210	hsa-miR-4668-3p	PAR-CLIP	23708386
MIRT495208	hsa-miR-4282	PAR-CLIP	23708386
MIRT495209	hsa-miR-605-5p	PAR-CLIP	23708386
MIRT495207	hsa-miR-3606-3p	PAR-CLIP	23708386
MIRT495206	hsa-miR-513a-3p	PAR-CLIP	23708386
MIRT495205	hsa-miR-513c-3p	PAR-CLIP	23708386
MIRT495204	hsa-miR-8063	PAR-CLIP	23708386
MIRT495203	hsa-miR-6728-3p	PAR-CLIP	23708386
MIRT495202	hsa-miR-4769-3p	PAR-CLIP	23708386
MIRT495201	hsa-miR-6817-5p	PAR-CLIP	23708386
MIRT495200	hsa-miR-3191-5p	PAR-CLIP	23708386
MIRT495199	hsa-miR-4727-5p	PAR-CLIP	23708386
MIRT495198	hsa-miR-4768-5p	PAR-CLIP	23708386
MIRT495197	hsa-miR-6833-3p	PAR-CLIP	23708386
MIRT495196	hsa-miR-6809-3p	PAR-CLIP	23708386
MIRT952733	hsa-miR-2054	CLIP-seq
MIRT952734	hsa-miR-25	CLIP-seq
MIRT952735	hsa-miR-3144-3p	CLIP-seq
MIRT952736	hsa-miR-3157-5p	CLIP-seq
MIRT952737	hsa-miR-32	CLIP-seq
MIRT952738	hsa-miR-363	CLIP-seq
MIRT952739	hsa-miR-367	CLIP-seq
MIRT952740	hsa-miR-3678-3p	CLIP-seq
MIRT952741	hsa-miR-4637	CLIP-seq
MIRT952742	hsa-miR-4691-3p	CLIP-seq
MIRT952743	hsa-miR-4742-3p	CLIP-seq
MIRT952744	hsa-miR-545	CLIP-seq
MIRT952745	hsa-miR-579	CLIP-seq
MIRT952746	hsa-miR-634	CLIP-seq
MIRT952747	hsa-miR-875-5p	CLIP-seq
MIRT952748	hsa-miR-92a	CLIP-seq
MIRT952749	hsa-miR-92b	CLIP-seq
MIRT952736	hsa-miR-3157-5p	CLIP-seq
MIRT952742	hsa-miR-4691-3p	CLIP-seq
MIRT952745	hsa-miR-579	CLIP-seq
MIRT2387219	hsa-miR-433	CLIP-seq
MIRT2428422	hsa-miR-1238	CLIP-seq
MIRT952736	hsa-miR-3157-5p	CLIP-seq
MIRT952742	hsa-miR-4691-3p	CLIP-seq
MIRT952744	hsa-miR-545	CLIP-seq
MIRT952745	hsa-miR-579	CLIP-seq
MIRT952746	hsa-miR-634	CLIP-seq
MIRT2521092	hsa-miR-2053	CLIP-seq
MIRT2521093	hsa-miR-3074-5p	CLIP-seq
MIRT2521094	hsa-miR-4447	CLIP-seq
MIRT2521095	hsa-miR-4472	CLIP-seq
MIRT2521096	hsa-miR-450b-5p	CLIP-seq
MIRT2521097	hsa-miR-518a-5p	CLIP-seq
MIRT2521098	hsa-miR-527	CLIP-seq
MIRT2521099	hsa-miR-548aa	CLIP-seq
MIRT2521093	hsa-miR-3074-5p	CLIP-seq
MIRT2521096	hsa-miR-450b-5p	CLIP-seq
MIRT2521097	hsa-miR-518a-5p	CLIP-seq
MIRT2521098	hsa-miR-527	CLIP-seq
MIRT2521099	hsa-miR-548aa	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002690	Process	Positive regulation of leukocyte chemotaxis	IDA	9696419
GO:0003100	Process	Regulation of systemic arterial blood pressure by endothelin	IBA	21873635
GO:0003100	Process	Regulation of systemic arterial blood pressure by endothelin	IDA	2649896
GO:0005102	Function	Signaling receptor binding	TAS	8298278
GO:0005179	Function	Hormone activity	IBA	21873635
GO:0005179	Function	Hormone activity	IDA	2649896, 10770212
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	15691296
GO:0006874	Process	Cellular calcium ion homeostasis	IBA	21873635
GO:0007165	Process	Signal transduction	TAS	8298278
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	1713452
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007267	Process	Cell-cell signaling	TAS	8298278
GO:0007275	Process	Multicellular organism development	TAS	8630502
GO:0008015	Process	Blood circulation	TAS	8298278
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	22897442
GO:0010460	Process	Positive regulation of heart rate	IDA	2649896
GO:0010468	Process	Regulation of gene expression	IGI	22897442
GO:0010961	Process	Cellular magnesium ion homeostasis	IEA
GO:0014824	Process	Artery smooth muscle contraction	IDA	8982507
GO:0014826	Process	Vein smooth muscle contraction	IBA	21873635
GO:0014826	Process	Vein smooth muscle contraction	IDA	8982507
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0030072	Process	Peptide hormone secretion	IDA	10770212
GO:0030182	Process	Neuron differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030593	Process	Neutrophil chemotaxis	IDA	9696419
GO:0031708	Function	Endothelin B receptor binding	IBA	21873635
GO:0031708	Function	Endothelin B receptor binding	IPI	1713452
GO:0042310	Process	Vasoconstriction	IDA	2649896, 8982507
GO:0043406	Process	Positive regulation of MAP kinase activity	IDA	10770212
GO:0045597	Process	Positive regulation of cell differentiation	IGI	22897442
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	10770212
GO:0046887	Process	Positive regulation of hormone secretion	IDA	10770212
GO:0048016	Process	Inositol phosphate-mediated signaling	IDA	1917960
GO:0048070	Process	Regulation of developmental pigmentation	IEA
GO:0060585	Process	Positive regulation of prostaglandin-endoperoxide synthase activity	IBA	21873635
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IEA

Other IDs

• MIM: 131242
• HGNC: 3178
• e!Ensembl: ENSG00000124205

Protein

• UniProt ID: P14138
• Protein name: Endothelin-3 (ET-3) (Preproendothelin-3) (PPET3)
• Protein function: Endothelins are endothelium-derived vasoconstrictor peptides.
• PDB: 6IGK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00322	Endothelin	93 → 121	Endothelin family	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. {ECO:0000269|PubMed:9284755}.
• Sequence:

  MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAG
  PGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCFTYKDKECVYYCHLDIIWINT
  PEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVS
  SNSRTAEKTDKEEEGKVEVKDQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP

• Sequence length: 238

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Vascular smooth muscle contraction
Renin secretion

Reactome:

Peptide ligand-binding receptors
G alpha (q) signalling events

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital central hypoventilation	Congenital central hypoventilation	rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366	9359047, 8696331
Haddad syndrome	CCHS WITH HIRSCHSPRUNG DISEASE	rs1297909281, rs587776626, rs1733941453, rs73810366	8696331
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hirschsprung disease	Hirschsprung Disease, Hirschsprung disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869	9359047, 8630502, 8630503, 8896568
Hypertension	Hypertensive disease	rs13306026	2059916
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Waardenburg syndrome	WAARDENBURG SYNDROME, TYPE 4A, Waardenburg Syndrome, Type 4b, Waardenburg Syndrome, Waardenburg-Shah syndrome	rs1559320436, rs104893650, rs1559320252, rs1559316535, rs587776586, rs1559318562, rs104893651, rs104893653, rs1559318494, rs104893654, rs267606931, rs74315514, rs73415876, rs397515366, rs397515367, rs74315515, rs281797260, rs74315520, rs1555939381, rs397515369, rs121909117, rs397515370, rs267607081, rs1553701477, rs1553703612, rs1553704814, rs104893744, rs1553705282, rs104893746, rs104894388, rs104894390, rs104894391, rs1568823517, rs74315384, rs74315385, rs267606778, rs267606779, rs397515386, rs397515387, rs387906947, rs1559316542, rs397515457, rs483353057, rs876657717, rs876657699, rs876661317, rs878853234, rs886041319, rs774528745, rs1057517966, rs1057518765, rs1057518656, rs1057519325, rs1057519326, rs1057519327, rs1057521096, rs1064796049, rs1064797294, rs1553575159, rs1553575179, rs1553592766, rs1553593965, rs1419548558, rs773327091, rs1553702006, rs1555937398, rs1555938422, rs1555939415, rs1555939564, rs772241382, rs1553704841, rs1555937390, rs1553572967, rs1553572976, rs1555939408, rs1569167586, rs1555938395, rs1555939491, rs768126403, rs1569167607, rs1559749017, rs147682682, rs147111779, rs1559320299, rs1553704086, rs1236436555, rs1553568831, rs369886550, rs1553572740, rs1553572946, rs1380858784, rs1228590199, rs1553575157, rs1553575191, rs1553592703, rs1553592713, rs1553592757, rs1553593874, rs777297575, rs1553593917, rs1553593928, rs1356246522, rs1553594009, rs1553594069, rs1553702406, rs1553704097, rs1553704850, rs1555290659, rs1458799604, rs977075341, rs1555937395, rs1555937400, rs1555937463, rs763210407, rs1373797370, rs1555939403, rs1555939421, rs1555939426, rs1555939459, rs1555939460, rs1555939476, rs1555939523, rs1569169328, rs1569169289, rs1569167515, rs1601886662, rs1574646155, rs1574771535, rs1932141204, rs1601878540, rs1576047519, rs1601878759, rs1574772091, rs1932477493	19764030, 8630503, 17516928, 8630502, 27018795, 10231870, 8001160, 12189494, 22876130, 9359047, 20127975, 11303518, 28263850

Unknown
Disease term	Disease name	Evidence	References	Source
Waardenburg Syndrome	Waardenburg syndrome type 4B, Waardenburg syndrome			GenCC
Hirschsprung Disease	Hirschsprung disease, susceptibility to, 4			GenCC
Biliary Atresia	Biliary Atresia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	34745015
Atherosclerosis	Associate	28880927
Bacteremia	Associate	31167651
Breast Neoplasms	Associate	19527488, 24489661
Carcinogenesis	Inhibit	33537832
Choriocarcinoma	Associate	18362896
Colorectal Neoplasms	Associate	26684626
Cross Infection	Associate	31167651
Deafness	Associate	8630503
Endometrial Neoplasms	Associate	36542159
Essential Hypertension	Associate	32555714
Hirschsprung Disease	Associate	10204849, 10874640, 14669347, 19925665, 20009762, 20495744, 8630503
Hirschsprung disease 1	Associate	23840513
Iris Diseases	Associate	23840513
Kidney Failure Chronic	Associate	31167651
Melanoma Cutaneous Malignant	Associate	8645250
Melanosis	Associate	35840442
Muscular Dystrophy Duchenne	Associate	22876130
Neoplasms	Inhibit	26684626
Neoplasms	Associate	34745015
Prurigo	Associate	30809683
Spinal Cord Injuries	Associate	39367463
Thyroid Cancer Papillary	Inhibit	33537832
Uterine Cervical Neoplasms	Associate	28656315
Waardenburg Syndrome	Associate	10536986, 22876130, 25932447, 29630160, 32908492, 36329483
Waardenburg syndrome type 2	Associate	8630503
Waardenburg syndrome type 2A	Associate	36329483
Waardenburg syndrome type 4	Associate	10762540, 16623715, 28128317, 8630503