WDR62 (WD repeat domain 62)

Gene

• Entrez ID: 284403
• Gene name: WD repeat domain 62
• Gene symbol: WDR62
• Synonyms (NCBI Gene): C19orf14, MCPH2
• Disease Acronyms (UniProt): MCPH2
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provid

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2301734	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs35811023	C>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs117887683	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs137919897	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, upstream transcript variant
rs139371621	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs139460397	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs139749569	T>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs139946168	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs141344823	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant
rs146180208	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs146485488	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs147652186	C>A,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs147875659	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs148415080	C>T	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs148667984	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, synonymous variant, upstream transcript variant, coding sequence variant
rs199736219	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs201053854	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs201363122	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs202109439	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs267607176	G>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs267607177	C>T	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs373906889	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs376633424	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs377731205	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs387907082	G>A	Pathogenic	Coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs387907083	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant, intron variant
rs387907084	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs397704721	TGCC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs397704725	GCCAAGAGCCTGCCCTG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs587776899	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs587776900	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs587776901	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs587784542	C>T	Likely-pathogenic	Upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs587784543	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs587784546	->AAAGCAT	Pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs587784548	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs587784549	C>G	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs587784553	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs587784554	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs587784558	C>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs757091694	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs757294519	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, intron variant
rs764201220	AGAG>-,AG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs765451882	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, non coding transcript variant, intron variant
rs769688376	C>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, upstream transcript variant, non coding transcript variant
rs773948810	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs776948954	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs778207666	G>A	Uncertain-significance, pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, synonymous variant, non coding transcript variant
rs779093591	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs797046109	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs863223322	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs863223377	T>C	Pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs886041863	T>G	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1006898944	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1064793462	CA>GTGGTCTGAG	Pathogenic	Coding sequence variant, inframe indel, genic downstream transcript variant, stop gained
rs1064797237	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1213710245	->T	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1265252597	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs1379578836	C>A,G,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1555723585	->AGCCATCCACTCCCCAGCTCCGC	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555725014	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568334868	ACAGGTCTCCCT>-	Likely-pathogenic	Upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, splice acceptor variant
rs1599760058	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1599774265	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant
rs1599805729	->GCTG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1599841026	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1599851667	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599852762	->GTCCCCAC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016504	hsa-miR-193b-3p	Microarray	20304954
MIRT045652	hsa-miR-149-5p	CLASH	23622248
MIRT045108	hsa-miR-186-5p	CLASH	23622248
MIRT040399	hsa-miR-615-3p	CLASH	23622248
MIRT039350	hsa-miR-542-5p	CLASH	23622248
MIRT039175	hsa-miR-769-5p	CLASH	23622248
MIRT037077	hsa-miR-877-3p	CLASH	23622248
MIRT052764	hsa-miR-1260b	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IBA	21873635
GO:0000922	Component	Spindle pole	IDA	20890278, 20890279
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 26297806, 26496610, 28089251, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	20729831
GO:0005813	Component	Centrosome	IDA	26297806
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007052	Process	Mitotic spindle organization	IBA	21873635
GO:0007052	Process	Mitotic spindle organization	IMP	24388750
GO:0007099	Process	Centriole replication	IMP	26297806
GO:0021987	Process	Cerebral cortex development	IMP	20729831
GO:0022008	Process	Neurogenesis	IBA	21873635
GO:0022008	Process	Neurogenesis	IMP	20890278
GO:0034451	Component	Centriolar satellite	IDA

Other IDs

• MIM: 613583
• HGNC: 24502
• e!Ensembl: ENSG00000075702

Protein

• UniProt ID: O43379
• Protein name: WD repeat-containing protein 62
• Protein function: Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20729831, PubMed:20890278). Plays a role in mother-centriole-dependent centriole duplication; the function also seems to involve CEP152, CDK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	101 → 141	WD domain, G-beta repeat	Repeat
  PF00400	WD40	348 → 387	WD domain, G-beta repeat	Repeat
  PF00400	WD40	399 → 441	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells. {ECO:0000269|PubMed:20890279}.
• Sequence:

  MAAVGSGGYARNDAGEKLPSVMAGVPARRGQSSPPPAPPICLRRRTRLSTASEETVQNRV
  SLEKVLGITAQNSSGLTCDPGTGHVAYLAGCVVVILDPKENKQQHIFNTARKSLSALAFS
  PDGKYIVTGENGHRPAVRIWDVEEKNQVAEMLGHKYGVACVAFSPNMKHIVSMGYQHDMV
  LNVWDWKKDIVVASNKVSCRVIALSFSEDSSYFVTVGNRHVRFWFLEVSTETKVTSTVPL
  VGRSGILGELHNNIFCGVACGRGRMAGSTFCVSYSGLLCQFNEKRVLEKWINLKVSLSSC
  LCVSQELIFCGCTDGIVRIFQAHSLHYLANLPKPHYLGVDVAQGLEPSFLFHRKAEAVYP
  DTVALTFDPIHQWLSCVYKDHSIYIWDVKDINRVGKVWSELFHSSYVWNVEVYPEFEDQR
  ACLPSGSFLTCSSDNTIRFWNLDSSPDSHWQKNIFSNTLLKVVYVENDIQHLQDMSHFPD
  RGSENGTPMDVKAGVRVMQVSPDGQHLASGDRSGNLRIHELHFMDELVKVEAHDAEVLCL
  EYSKPETGLTLLASASRDRLIHVLNVEKNYNLEQTLDDHSSSITAIKFAGNRDIQMISCG
  ADKSIYFRSAQQGSDGLHFVRTHHVAEKTTLYDMDIDITQKYVAVACQDRNVRVYNTVNG
  KQKKCYKGSQGDEGSLLKVHVDPSGTFLATSCSDKSISVIDFYSGECIAKMFGHSEIITS
  MKFTYDCHHLITVSGDSCVFIWHLGPEITNCMKQHLLEIDHRQQQQHTNDKKRSGHPRQD
  TYVSTPSEIHSLSPGEQTEDDLEEECEPEEMLKTPSKDSLDPDPRCLLTNGKLPLWAKRL
  LGDDDVADGLAFHAKRSYQPHGRWAERAGQEPLKTILDAQDLDCYFTPMKPESLENSILD
  SLEPQSLASLLSESESPQEAGRGHPSFLPQQKESSEASELILYSLEAEVTVTGTDSQYCR
  KEVEAGPGDQQGDSYLRVSSDSPKDQSPPEDSGESEADLECSFAAIHSPAPPPDPAPRFA
  TSLPHFPGCAGPTEDELSLPEGPSVPSSSLPQTPEQEKFLRHHFETLTESPCRALGDVEA
  SEAEDHFFNPRLSISTQFLSSLQKASRFTHTFPPRATQCLVKSPEVKLMDRGGSQPRAGT
  GYASPDRTHVLAAGKAEETLEAWRPPPPCLTSLASCVPASSVLPTDRNLPTPTSAPTPGL
  AQGVHAPSTCSYMEATASSRARISRSISLGDSEGPIVATLAQPLRRPSSVGELASLGQEL
  QAITTATTPSLDSEGQEPALRSWGNHEARANLRLTLSSACDGLLQPPVDTQPGVTVPAVS
  FPAPSPVEESALRLHGSAFRPSLPAPESPGLPAHPSNPQLPEARPGIPGGTASLLEPTSG
  ALGLLQGSPARWSEPWVPVEALPPSPLELSRVGNILHRLQTTFQEALDLYRVLVSSGQVD
  TGQQQARTELVSTFLWIHSQLEAECLVGTSVAPAQALPSPGPPSPPTLYPLASPDLQALL
  EHYSELLVQAVRRKARGH

• Sequence length: 1518

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
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
Mental retardation	Profound Mental Retardation, Severe intellectual disability, Mental deficiency, 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	21937992
Microcephaly	Microcephaly, MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder), Microcephaly, Primary Autosomal Recessive, 2, Autosomal Recessive Primary Microcephaly, Primary 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	20890279, 20890278, 21496009, 20729831, 28377545
Microlissencephaly	Microlissencephaly	rs771116788	20890278, 20890279
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Schizencephaly	Schizencephaly	rs2133969658, rs1564751655, rs1411887961, rs755549724, rs387906867
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic tetraparesis	Spastic tetraparesis			ClinVar
Atrial Fibrillation	Atrial Fibrillation			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Corpus Callosum	Associate	24228726
Autosomal Recessive Primary Microcephaly	Associate	10677332, 21961505, 24228726, 24479948, 26297806, 28377545, 30021525, 32677750, 33921653, 34068194, 34137788, 34402213, 37272619
Brain Diseases	Associate	34137788, 37272619
Breast Neoplasms	Associate	30091641
Carcinogenesis	Associate	35758246
Central Nervous System Vascular Malformations	Associate	28377545
Cerebellar Hypoplasia	Associate	24228726
Colorectal Neoplasms	Associate	35758246
Congenital Abnormalities	Associate	33921653
Developmental Disabilities	Associate	24479948, 33921653
Fetal Alcohol Spectrum Disorders	Associate	37272619
Gerstmann Syndrome	Associate	28377545
Head and Neck Neoplasms	Associate	28377545
Hippocampal Sclerosis	Associate	24228726
Intellectual Disability	Associate	30500859
Lissencephaly	Associate	30091641
Malformations of Cortical Development	Associate	23341463, 25385192, 33921653
Microcephaly	Associate	20890278, 23341463, 24228726, 25385192, 25501809, 26297806, 28377545, 30021525, 30091641, 32677750, 33921653, 34068194, 37272619
Microcephaly Primary Autosomal Recessive 2	Associate	24228726, 33921653
Microcephaly with Simplified Gyral Pattern	Associate	20890278
Neoplasms	Stimulate	34306258
Neoplasms	Associate	35758246
Neurologic Manifestations	Associate	34068194
Polymicrogyria	Associate	21834044, 33818783