WDR4 (WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit)

Gene

• Entrez ID: 10785
• Gene name: WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit
• Gene symbol: WDR4
• Synonyms (NCBI Gene): GAMOS6, MIGSB, TRM82, TRMT82, Wuho, hWH
• Disease Acronyms (UniProt): GAMOS6, MIGSB
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs776760122	->G	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, non coding transcript variant
rs779449710	T>C,G	Pathogenic	Intron variant, splice acceptor variant
rs1292041526	C>A,T	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1555976610	T>A,G	Pathogenic, uncertain-significance	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1569314907	->GCAGTCCTGGAGCACCC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006119	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blot	21953056
MIRT006119	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blot	21953056
MIRT006119	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blot	21953056
MIRT006119	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blot	21953056
MIRT006119	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blot	21953056
MIRT006119	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blot	21953056
MIRT029098	hsa-miR-26b-5p	Microarray	19088304
MIRT032196	hsa-let-7b-5p	Proteomics	18668040
MIRT051666	hsa-let-7e-5p	CLASH	23622248
MIRT048521	hsa-miR-100-5p	CLASH	23622248
MIRT041960	hsa-miR-484	CLASH	23622248
MIRT039661	hsa-miR-615-3p	CLASH	23622248
MIRT036980	hsa-miR-877-3p	CLASH	23622248
MIRT439289	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT439289	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT1490526	hsa-miR-1253	CLIP-seq
MIRT1490527	hsa-miR-146a	CLIP-seq
MIRT1490528	hsa-miR-146b-5p	CLIP-seq
MIRT1490529	hsa-miR-1915	CLIP-seq
MIRT1490530	hsa-miR-203	CLIP-seq
MIRT1490531	hsa-miR-22	CLIP-seq
MIRT1490532	hsa-miR-3125	CLIP-seq
MIRT1490533	hsa-miR-3141	CLIP-seq
MIRT1490534	hsa-miR-3189-5p	CLIP-seq
MIRT1490535	hsa-miR-342-3p	CLIP-seq
MIRT1490536	hsa-miR-362-5p	CLIP-seq
MIRT1490537	hsa-miR-384	CLIP-seq
MIRT1490538	hsa-miR-3916	CLIP-seq
MIRT1490539	hsa-miR-4284	CLIP-seq
MIRT1490540	hsa-miR-4323	CLIP-seq
MIRT1490541	hsa-miR-4476	CLIP-seq
MIRT1490542	hsa-miR-4632	CLIP-seq
MIRT1490543	hsa-miR-4712-3p	CLIP-seq
MIRT1490544	hsa-miR-4768-3p	CLIP-seq
MIRT1490545	hsa-miR-4773	CLIP-seq
MIRT1490546	hsa-miR-4793-5p	CLIP-seq
MIRT1490547	hsa-miR-500b	CLIP-seq
MIRT1490548	hsa-miR-502-5p	CLIP-seq
MIRT1490549	hsa-miR-518d-5p	CLIP-seq
MIRT1490550	hsa-miR-519b-5p	CLIP-seq
MIRT1490551	hsa-miR-519c-5p	CLIP-seq
MIRT1490552	hsa-miR-520c-5p	CLIP-seq
MIRT1490553	hsa-miR-526a	CLIP-seq
MIRT1490554	hsa-miR-543	CLIP-seq
MIRT1490555	hsa-miR-580	CLIP-seq
MIRT1490556	hsa-miR-589	CLIP-seq
MIRT1490557	hsa-miR-628-5p	CLIP-seq
MIRT1490558	hsa-miR-877	CLIP-seq
MIRT1490559	hsa-miR-199a-3p	CLIP-seq
MIRT1490560	hsa-miR-199b-3p	CLIP-seq
MIRT1490561	hsa-miR-2467-3p	CLIP-seq
MIRT1490562	hsa-miR-3129-5p	CLIP-seq
MIRT1490563	hsa-miR-3148	CLIP-seq
MIRT1490564	hsa-miR-4268	CLIP-seq
MIRT1490565	hsa-miR-4448	CLIP-seq
MIRT1490566	hsa-miR-4733-5p	CLIP-seq
MIRT1490567	hsa-miR-4797-3p	CLIP-seq
MIRT1490568	hsa-miR-936	CLIP-seq
MIRT1921052	hsa-miR-1227	CLIP-seq
MIRT1921053	hsa-miR-197	CLIP-seq
MIRT1921054	hsa-miR-4715-3p	CLIP-seq
MIRT1921055	hsa-miR-494	CLIP-seq
MIRT1921052	hsa-miR-1227	CLIP-seq
MIRT1921053	hsa-miR-197	CLIP-seq
MIRT1921054	hsa-miR-4715-3p	CLIP-seq
MIRT1921055	hsa-miR-494	CLIP-seq
MIRT1921052	hsa-miR-1227	CLIP-seq
MIRT1921053	hsa-miR-197	CLIP-seq
MIRT1921054	hsa-miR-4715-3p	CLIP-seq
MIRT1921055	hsa-miR-494	CLIP-seq
MIRT1921052	hsa-miR-1227	CLIP-seq
MIRT1921053	hsa-miR-197	CLIP-seq
MIRT1921054	hsa-miR-4715-3p	CLIP-seq
MIRT1921055	hsa-miR-494	CLIP-seq
MIRT1490561	hsa-miR-2467-3p	CLIP-seq
MIRT2147905	hsa-miR-3545-5p	CLIP-seq
MIRT1490566	hsa-miR-4733-5p	CLIP-seq
MIRT1921052	hsa-miR-1227	CLIP-seq
MIRT2368310	hsa-miR-1237	CLIP-seq
MIRT2368311	hsa-miR-1248	CLIP-seq
MIRT1490526	hsa-miR-1253	CLIP-seq
MIRT2368312	hsa-miR-1305	CLIP-seq
MIRT2368313	hsa-miR-1324	CLIP-seq
MIRT1490527	hsa-miR-146a	CLIP-seq
MIRT1490528	hsa-miR-146b-5p	CLIP-seq
MIRT2368314	hsa-miR-147	CLIP-seq
MIRT1490529	hsa-miR-1915	CLIP-seq
MIRT1921053	hsa-miR-197	CLIP-seq
MIRT1490533	hsa-miR-3141	CLIP-seq
MIRT2368315	hsa-miR-3179	CLIP-seq
MIRT1490534	hsa-miR-3189-5p	CLIP-seq
MIRT1490536	hsa-miR-362-5p	CLIP-seq
MIRT1490537	hsa-miR-384	CLIP-seq
MIRT2368316	hsa-miR-3911	CLIP-seq
MIRT2368317	hsa-miR-421	CLIP-seq
MIRT1490540	hsa-miR-4323	CLIP-seq
MIRT2368318	hsa-miR-4475	CLIP-seq
MIRT1490541	hsa-miR-4476	CLIP-seq
MIRT2368319	hsa-miR-4635	CLIP-seq
MIRT2368320	hsa-miR-4663	CLIP-seq
MIRT2368321	hsa-miR-4709-5p	CLIP-seq
MIRT1490543	hsa-miR-4712-3p	CLIP-seq
MIRT1921054	hsa-miR-4715-3p	CLIP-seq
MIRT1490544	hsa-miR-4768-3p	CLIP-seq
MIRT1490545	hsa-miR-4773	CLIP-seq
MIRT2368322	hsa-miR-4777-5p	CLIP-seq
MIRT1490546	hsa-miR-4793-5p	CLIP-seq
MIRT1490547	hsa-miR-500b	CLIP-seq
MIRT1490549	hsa-miR-518d-5p	CLIP-seq
MIRT1490550	hsa-miR-519b-5p	CLIP-seq
MIRT1490551	hsa-miR-519c-5p	CLIP-seq
MIRT1490552	hsa-miR-520c-5p	CLIP-seq
MIRT1490553	hsa-miR-526a	CLIP-seq
MIRT2368323	hsa-miR-526b	CLIP-seq
MIRT1490554	hsa-miR-543	CLIP-seq
MIRT1490555	hsa-miR-580	CLIP-seq
MIRT1490556	hsa-miR-589	CLIP-seq
MIRT2368324	hsa-miR-644	CLIP-seq
MIRT2368325	hsa-miR-646	CLIP-seq
MIRT1490532	hsa-miR-3125	CLIP-seq
MIRT1490538	hsa-miR-3916	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15861136, 16189514, 25416956, 26751069, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	15861136
GO:0005654	Component	Nucleoplasm	HDA	16780588
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0006400	Process	TRNA modification	IDA	15861136
GO:0006974	Process	Cellular response to DNA damage stimulus	IEA
GO:0008176	Function	TRNA (guanine-N7-)-methyltransferase activity	IBA	21873635
GO:0008176	Function	TRNA (guanine-N7-)-methyltransferase activity	IDA	12403464
GO:0043527	Component	TRNA methyltransferase complex	IBA	21873635
GO:0043527	Component	TRNA methyltransferase complex	IDA	12403464
GO:0106004	Process	TRNA (guanine-N7)-methylation	IEA

Other IDs

• MIM: 605924
• HGNC: 12756
• e!Ensembl: ENSG00000160193

Protein

• UniProt ID: P57081
• Protein name: tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 (Protein Wuho homolog) (hWH) (WD repeat-containing protein 4)
• Protein function: Non-catalytic component of the METTL1-WDR4 methyltransferase complex required for the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031083, PubMed:31031084, Pub
• PDB: 7U20, 8CTH, 8CTI, 8D58, 8D9K, 8D9L, 8EG0, 8H0N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	178 → 217	WD domain, G-beta repeat	Repeat

• Sequence:

  MAGSVGLALCGQTLVVRGGSRFLATSIASSDDDSLFIYDCSAAEKKSQENKGEDAPLDQG
  SGAILASTFSKSGSYFALTDDSKRLILFRTKPWQCLSVRTVARRCTALTFIASEEKVLVA
  DKSGDVYSFSVLEPHGCGRLELGHLSMLLDVAVSPDDRFILTADRDEKIRVSWAAAPHSI
  ESFCLGHTEFVSRISVVPTQPGLLLSSSGDGTLRLWEYRSGRQLHCCHLASLQELVDPQA
  PQKFAASRIAFWCQENCVALLCDGTPVVYIFQLDARRQQLVYRQQLAFQHQVWDVAFEET
  QGLWVLQDCQEAPLVLYRPVGDQWQSVPESTVLKKVSGVLRGNWAMLEGSAGADASFSSL
  YKATFDNVTSYLKKKEERLQQQLEKKQRRRSPPPGPDGHAKKMRPGEATLSC

• Sequence length: 412

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay, Profound global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Galloway-mowat syndrome	Galloway Mowat syndrome, Galloway-Mowat syndrome	rs727502863, rs727502864, rs730882216, rs797044992, rs767086146, rs754099015, rs797044993, rs797044994, rs797044995, rs863223396, rs869320712, rs776760122, rs1555976610, rs1557211306, rs1557211209, rs1557211410, rs1431526147, rs1432218739, rs773814837, rs1233885358, rs753237335, rs140076803, rs1555331969, rs144732839, rs1443735811, rs374322839, rs773173317, rs140583554, rs1292041526, rs1569314907, rs779449710, rs1433513056, rs745342141, rs866551482, rs1282630153, rs1596050297, rs774069989	30079490
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
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	26416026
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myeloproliferative disorder	Chronic myeloproliferative disorder	rs267606708, rs77375493	29597095
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Seckel syndrome	Seckel syndrome	rs864321658, rs587776883, rs966888627, rs1349385657, rs1164567042, rs387907327, rs587777614, rs587777851, rs587777852, rs797045403, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs747680111, rs767664526, rs864622784, rs746387482, rs757613817, rs773917653, rs762396810, rs1060499557, rs1131691823, rs1553760567, rs1342429887, rs1553761113, rs1481733213, rs373844676	29597095

Unknown
Disease term	Disease name	Evidence	References	Source
Galloway-Mowat Syndrome	Galloway-Mowat syndrome 6, Galloway-Mowat syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	36635678, 37116150, 38281298
Astrocytoma	Associate	36733406
Brain Diseases	Associate	26416026
Carcinogenesis	Associate	34282052, 36599985
Carcinoma Hepatocellular	Associate	37528384
Carcinoma Non Small Cell Lung	Associate	37821451
Cataract Congenital Nuclear Autosomal Recessive 2	Associate	36599982
Central Nervous System Vascular Malformations	Associate	36599982
Colitis Ulcerative	Associate	37055577
Developmental Disabilities	Associate	30079490
Esophageal Squamous Cell Carcinoma	Associate	35574843
Galloway Mowat syndrome	Associate	30079490
Glioma	Associate	36733406
Glycosuria Renal	Associate	30079490
Growth Disorders	Associate	30079490
Intellectual Disability	Associate	30079490
Lung Neoplasms	Associate	34371184, 37821451
Microcephaly	Associate	30079490, 36755238
Neoplasm Metastasis	Associate	37821451
Neoplasms	Associate	34282052, 34285249, 34416137, 36599985, 36635678
Nephrotic Syndrome	Associate	30079490
Osteoarthritis	Associate	37006267
Pituitary dwarfism 1	Associate	26416026, 26429597
Proteinuria	Associate	30079490
Seckel syndrome 1	Associate	26416026
Thrombocythemia Essential	Associate	31289202