ZNHIT3 (zinc finger HIT-type containing 3)

Gene

• Entrez ID: 9326
• Gene name: Zinc finger HIT-type containing 3
• Gene symbol: ZNHIT3
• Synonyms (NCBI Gene): Hit1, PEHO, TRIP3
• Disease Acronyms (UniProt): PEHO
• Chromosome: 17
• Chromosome location: 17q12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024305	hsa-miR-215-5p	Microarray	19074876
MIRT026564	hsa-miR-192-5p	Microarray	19074876
MIRT043888	hsa-miR-378a-3p	CLASH	23622248
MIRT449216	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT449214	hsa-miR-4795-5p	PAR-CLIP	22100165
MIRT449213	hsa-miR-144-5p	PAR-CLIP	22100165
MIRT449212	hsa-miR-3616-5p	PAR-CLIP	22100165
MIRT449211	hsa-miR-573	PAR-CLIP	22100165
MIRT449216	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT449214	hsa-miR-4795-5p	PAR-CLIP	22100165
MIRT449213	hsa-miR-144-5p	PAR-CLIP	22100165
MIRT449212	hsa-miR-3616-5p	PAR-CLIP	22100165
MIRT449211	hsa-miR-573	PAR-CLIP	22100165
MIRT1542923	hsa-miR-101	CLIP-seq
MIRT1542924	hsa-miR-1272	CLIP-seq
MIRT1542925	hsa-miR-1322	CLIP-seq
MIRT1542926	hsa-miR-141	CLIP-seq
MIRT1542927	hsa-miR-144	CLIP-seq
MIRT1542928	hsa-miR-200a	CLIP-seq
MIRT1542929	hsa-miR-2052	CLIP-seq
MIRT1542930	hsa-miR-2964a-5p	CLIP-seq
MIRT1542931	hsa-miR-4477a	CLIP-seq
MIRT1542932	hsa-miR-4796-5p	CLIP-seq
MIRT1542933	hsa-miR-548a-5p	CLIP-seq
MIRT1542934	hsa-miR-548ab	CLIP-seq
MIRT1542935	hsa-miR-548ac	CLIP-seq
MIRT1542936	hsa-miR-548ae	CLIP-seq
MIRT1542937	hsa-miR-548aj	CLIP-seq
MIRT1542938	hsa-miR-548ak	CLIP-seq
MIRT1542939	hsa-miR-548am	CLIP-seq
MIRT1542940	hsa-miR-548b-5p	CLIP-seq
MIRT1542941	hsa-miR-548c-5p	CLIP-seq
MIRT1542942	hsa-miR-548d-3p	CLIP-seq
MIRT1542943	hsa-miR-548d-5p	CLIP-seq
MIRT1542944	hsa-miR-548h	CLIP-seq
MIRT1542945	hsa-miR-548i	CLIP-seq
MIRT1542946	hsa-miR-548j	CLIP-seq
MIRT1542947	hsa-miR-548n	CLIP-seq
MIRT1542948	hsa-miR-548w	CLIP-seq
MIRT1542949	hsa-miR-548x	CLIP-seq
MIRT1542950	hsa-miR-548y	CLIP-seq
MIRT1542951	hsa-miR-548z	CLIP-seq
MIRT1542952	hsa-miR-559	CLIP-seq
MIRT1542953	hsa-miR-936	CLIP-seq
MIRT2163785	hsa-miR-136	CLIP-seq
MIRT2163786	hsa-miR-192	CLIP-seq
MIRT2163787	hsa-miR-215	CLIP-seq
MIRT2163788	hsa-miR-3064-3p	CLIP-seq
MIRT2163789	hsa-miR-346	CLIP-seq
MIRT2163790	hsa-miR-3691-3p	CLIP-seq
MIRT2163791	hsa-miR-4477b	CLIP-seq
MIRT2163792	hsa-miR-4715-3p	CLIP-seq
MIRT2163793	hsa-miR-4764-3p	CLIP-seq
MIRT2163794	hsa-miR-4768-5p	CLIP-seq
MIRT2163795	hsa-miR-494	CLIP-seq
MIRT1542924	hsa-miR-1272	CLIP-seq
MIRT1542925	hsa-miR-1322	CLIP-seq
MIRT2163785	hsa-miR-136	CLIP-seq
MIRT1542926	hsa-miR-141	CLIP-seq
MIRT2382979	hsa-miR-15a	CLIP-seq
MIRT2382980	hsa-miR-15b	CLIP-seq
MIRT2382981	hsa-miR-16	CLIP-seq
MIRT2382982	hsa-miR-195	CLIP-seq
MIRT1542928	hsa-miR-200a	CLIP-seq
MIRT2382983	hsa-miR-2355-5p	CLIP-seq
MIRT1542930	hsa-miR-2964a-5p	CLIP-seq
MIRT2163788	hsa-miR-3064-3p	CLIP-seq
MIRT2382984	hsa-miR-3152-5p	CLIP-seq
MIRT2382985	hsa-miR-324-5p	CLIP-seq
MIRT2163789	hsa-miR-346	CLIP-seq
MIRT2382986	hsa-miR-3647-5p	CLIP-seq
MIRT2382987	hsa-miR-3670	CLIP-seq
MIRT2382988	hsa-miR-3690	CLIP-seq
MIRT2163790	hsa-miR-3691-3p	CLIP-seq
MIRT2382989	hsa-miR-424	CLIP-seq
MIRT2382990	hsa-miR-4254	CLIP-seq
MIRT2382991	hsa-miR-4261	CLIP-seq
MIRT2382992	hsa-miR-4323	CLIP-seq
MIRT1542931	hsa-miR-4477a	CLIP-seq
MIRT2163791	hsa-miR-4477b	CLIP-seq
MIRT2163792	hsa-miR-4715-3p	CLIP-seq
MIRT2163793	hsa-miR-4764-3p	CLIP-seq
MIRT2382993	hsa-miR-4774-3p	CLIP-seq
MIRT2382994	hsa-miR-4793-5p	CLIP-seq
MIRT1542932	hsa-miR-4796-5p	CLIP-seq
MIRT2163795	hsa-miR-494	CLIP-seq
MIRT2382995	hsa-miR-497	CLIP-seq
MIRT2382996	hsa-miR-875-3p	CLIP-seq
MIRT1542926	hsa-miR-141	CLIP-seq
MIRT1542928	hsa-miR-200a	CLIP-seq
MIRT2163793	hsa-miR-4764-3p	CLIP-seq
MIRT1542924	hsa-miR-1272	CLIP-seq
MIRT1542925	hsa-miR-1322	CLIP-seq
MIRT2163786	hsa-miR-192	CLIP-seq
MIRT2163787	hsa-miR-215	CLIP-seq
MIRT2382983	hsa-miR-2355-5p	CLIP-seq
MIRT1542930	hsa-miR-2964a-5p	CLIP-seq
MIRT2382984	hsa-miR-3152-5p	CLIP-seq
MIRT2673489	hsa-miR-3192	CLIP-seq
MIRT2382985	hsa-miR-324-5p	CLIP-seq
MIRT2382986	hsa-miR-3647-5p	CLIP-seq
MIRT2673490	hsa-miR-3663-5p	CLIP-seq
MIRT2382987	hsa-miR-3670	CLIP-seq
MIRT2382988	hsa-miR-3690	CLIP-seq
MIRT2382990	hsa-miR-4254	CLIP-seq
MIRT2382991	hsa-miR-4261	CLIP-seq
MIRT2673491	hsa-miR-4314	CLIP-seq
MIRT2382992	hsa-miR-4323	CLIP-seq
MIRT2673492	hsa-miR-4419a	CLIP-seq
MIRT2673493	hsa-miR-4433	CLIP-seq
MIRT2673494	hsa-miR-4484	CLIP-seq
MIRT2673495	hsa-miR-4510	CLIP-seq
MIRT2673496	hsa-miR-4514	CLIP-seq
MIRT2673497	hsa-miR-4527	CLIP-seq
MIRT2673498	hsa-miR-4646-5p	CLIP-seq
MIRT2673499	hsa-miR-4661-5p	CLIP-seq
MIRT2673500	hsa-miR-4690-5p	CLIP-seq
MIRT2673501	hsa-miR-4692	CLIP-seq
MIRT2673502	hsa-miR-4736	CLIP-seq
MIRT2163793	hsa-miR-4764-3p	CLIP-seq
MIRT2382993	hsa-miR-4774-3p	CLIP-seq
MIRT2382994	hsa-miR-4793-5p	CLIP-seq
MIRT1542932	hsa-miR-4796-5p	CLIP-seq
MIRT2163795	hsa-miR-494	CLIP-seq
MIRT2673503	hsa-miR-548an	CLIP-seq
MIRT1542947	hsa-miR-548n	CLIP-seq
MIRT2673504	hsa-miR-657	CLIP-seq
MIRT2673505	hsa-miR-665	CLIP-seq
MIRT2382996	hsa-miR-875-3p	CLIP-seq
MIRT2673506	hsa-miR-940	CLIP-seq
MIRT2163786	hsa-miR-192	CLIP-seq
MIRT2163787	hsa-miR-215	CLIP-seq
MIRT2382983	hsa-miR-2355-5p	CLIP-seq
MIRT2382984	hsa-miR-3152-5p	CLIP-seq
MIRT2673489	hsa-miR-3192	CLIP-seq
MIRT2382985	hsa-miR-324-5p	CLIP-seq
MIRT2673490	hsa-miR-3663-5p	CLIP-seq
MIRT2382987	hsa-miR-3670	CLIP-seq
MIRT2382988	hsa-miR-3690	CLIP-seq
MIRT2382990	hsa-miR-4254	CLIP-seq
MIRT2382991	hsa-miR-4261	CLIP-seq
MIRT2673491	hsa-miR-4314	CLIP-seq
MIRT2382992	hsa-miR-4323	CLIP-seq
MIRT2673492	hsa-miR-4419a	CLIP-seq
MIRT2673494	hsa-miR-4484	CLIP-seq
MIRT2673495	hsa-miR-4510	CLIP-seq
MIRT2673496	hsa-miR-4514	CLIP-seq
MIRT2673497	hsa-miR-4527	CLIP-seq
MIRT2673498	hsa-miR-4646-5p	CLIP-seq
MIRT2673499	hsa-miR-4661-5p	CLIP-seq
MIRT2673500	hsa-miR-4690-5p	CLIP-seq
MIRT2673501	hsa-miR-4692	CLIP-seq
MIRT2673502	hsa-miR-4736	CLIP-seq
MIRT2382993	hsa-miR-4774-3p	CLIP-seq
MIRT2382994	hsa-miR-4793-5p	CLIP-seq
MIRT2163795	hsa-miR-494	CLIP-seq
MIRT2673503	hsa-miR-548an	CLIP-seq
MIRT2673504	hsa-miR-657	CLIP-seq
MIRT2382996	hsa-miR-875-3p	CLIP-seq
MIRT2673506	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000463	Process	Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	21873635
GO:0000492	Process	Box C/D snoRNP assembly	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25170085, 28335020, 28514442, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	28335020
GO:0005737	Component	Cytoplasm	IDA	28335020
GO:0006355	Process	Regulation of transcription, DNA-templated	TAS	7776974
GO:0046872	Function	Metal ion binding	IEA
GO:0046966	Function	Thyroid hormone receptor binding	TAS	7776974
GO:0048254	Process	SnoRNA localization	IBA	21873635
GO:0070761	Component	Pre-snoRNP complex	IBA	21873635

Other IDs

• MIM: 604500
• HGNC: 12309
• e!Ensembl: ENSG00000273611

Protein

• UniProt ID: Q15649
• Protein name: Zinc finger HIT domain-containing protein 3 (HNF-4a coactivator) (Thyroid hormone receptor interactor 3) (Thyroid receptor-interacting protein 3) (TR-interacting protein 3) (TRIP-3)
• PDB: 2YQQ, 5L85
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04438	zf-HIT	7 → 36	HIT zinc finger	Domain

• Sequence:

  MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTK
  TVKPVENKDDDDSIADFLNSDEEEDRVSLQNLKNLGESATLRSLLLNPHLRQLMVNLDQG
  EDKAKLMRAYMQEPLFVEFADCCLGIVEPSQNEES

• Sequence length: 155

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Developmental delay	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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Mental retardation	Severe 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
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	28335020
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
Peho syndrome	PEHO syndrome	rs387906799, rs672601368, rs797045164, rs148890852	28335020
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
West syndrome	West Syndrome	rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104

Unknown
Disease term	Disease name	Evidence	References	Source
Porencephalic cyst	Porencephalic cyst			ClinVar
PEHO Syndrome	PEHO syndrome			GenCC
Multiple Sclerosis	Multiple Sclerosis			GWAS
Diabetes	Diabetes			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	28639078
Developmental Disabilities	Associate	35843310
Diabetes Mellitus Type 2	Associate	17656577
Mason Type Diabetes	Associate	17656577
PEHO syndrome	Associate	31048081, 35843310