MYT1L (myelin transcription factor 1 like)

Gene

• Entrez ID: 23040
• Gene name: Myelin transcription factor 1 like
• Gene symbol: MYT1L
• Synonyms (NCBI Gene): MRD39, NZF1, ZC2H2C2, ZC2HC4B, myT1-L
• Disease Acronyms (UniProt): MRD39
• Chromosome: 2
• Chromosome location: 2p25.3
• Summary: This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869320675	C>T	Pathogenic	Splice donor variant
rs869320676	A>C	Pathogenic	Coding sequence variant, stop gained
rs878853045	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs886041655	C>A	Pathogenic	Stop gained, coding sequence variant
rs886041858	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041944	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057519560	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793449	GC>A	Pathogenic	Coding sequence variant, frameshift variant
rs1064793635	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794713	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1253072668	CAGCGCGTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1275489527	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553295440	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553297209	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553308328	C>T	Likely-pathogenic	Intron variant
rs1553324416	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553324762	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553395132	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1558371790	G>A	Pathogenic	Coding sequence variant, missense variant
rs1558414255	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1558710588	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1573483715	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1573501865	C>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017380	hsa-miR-335-5p	Microarray	18185580
MIRT029154	hsa-miR-26b-5p	Microarray	19088304
MIRT721408	hsa-miR-501-5p	HITS-CLIP	19536157
MIRT721407	hsa-miR-6792-5p	HITS-CLIP	19536157
MIRT721406	hsa-miR-4503	HITS-CLIP	19536157
MIRT721405	hsa-miR-7856-5p	HITS-CLIP	19536157
MIRT721408	hsa-miR-501-5p	HITS-CLIP	19536157
MIRT721407	hsa-miR-6792-5p	HITS-CLIP	19536157
MIRT721406	hsa-miR-4503	HITS-CLIP	19536157
MIRT721405	hsa-miR-7856-5p	HITS-CLIP	19536157
MIRT1170694	hsa-miR-106a	CLIP-seq
MIRT1170695	hsa-miR-106b	CLIP-seq
MIRT1170696	hsa-miR-1299	CLIP-seq
MIRT1170697	hsa-miR-17	CLIP-seq
MIRT1170698	hsa-miR-204	CLIP-seq
MIRT1170699	hsa-miR-20a	CLIP-seq
MIRT1170700	hsa-miR-20b	CLIP-seq
MIRT1170701	hsa-miR-211	CLIP-seq
MIRT1170702	hsa-miR-302a	CLIP-seq
MIRT1170703	hsa-miR-302b	CLIP-seq
MIRT1170704	hsa-miR-302c	CLIP-seq
MIRT1170705	hsa-miR-302d	CLIP-seq
MIRT1170706	hsa-miR-302e	CLIP-seq
MIRT1170707	hsa-miR-3120-3p	CLIP-seq
MIRT1170708	hsa-miR-3121-5p	CLIP-seq
MIRT1170709	hsa-miR-3143	CLIP-seq
MIRT1170710	hsa-miR-3151	CLIP-seq
MIRT1170711	hsa-miR-3202	CLIP-seq
MIRT1170712	hsa-miR-338-3p	CLIP-seq
MIRT1170713	hsa-miR-3613-3p	CLIP-seq
MIRT1170714	hsa-miR-3646	CLIP-seq
MIRT1170715	hsa-miR-372	CLIP-seq
MIRT1170716	hsa-miR-373	CLIP-seq
MIRT1170717	hsa-miR-4265	CLIP-seq
MIRT1170718	hsa-miR-4282	CLIP-seq
MIRT1170719	hsa-miR-4287	CLIP-seq
MIRT1170720	hsa-miR-4289	CLIP-seq
MIRT1170721	hsa-miR-4296	CLIP-seq
MIRT1170722	hsa-miR-4322	CLIP-seq
MIRT1170723	hsa-miR-4447	CLIP-seq
MIRT1170724	hsa-miR-4469	CLIP-seq
MIRT1170725	hsa-miR-4472	CLIP-seq
MIRT1170726	hsa-miR-4474-5p	CLIP-seq
MIRT1170727	hsa-miR-450b-5p	CLIP-seq
MIRT1170728	hsa-miR-4517	CLIP-seq
MIRT1170729	hsa-miR-4530	CLIP-seq
MIRT1170730	hsa-miR-4533	CLIP-seq
MIRT1170731	hsa-miR-4685-3p	CLIP-seq
MIRT1170732	hsa-miR-4762-5p	CLIP-seq
MIRT1170733	hsa-miR-491-5p	CLIP-seq
MIRT1170734	hsa-miR-512-3p	CLIP-seq
MIRT1170735	hsa-miR-519d	CLIP-seq
MIRT1170736	hsa-miR-520a-3p	CLIP-seq
MIRT1170737	hsa-miR-520b	CLIP-seq
MIRT1170738	hsa-miR-520c-3p	CLIP-seq
MIRT1170739	hsa-miR-520d-3p	CLIP-seq
MIRT1170740	hsa-miR-520e	CLIP-seq
MIRT1170741	hsa-miR-548p	CLIP-seq
MIRT1170742	hsa-miR-548t	CLIP-seq
MIRT1170743	hsa-miR-875-3p	CLIP-seq
MIRT1170744	hsa-miR-891b	CLIP-seq
MIRT1170745	hsa-miR-93	CLIP-seq
MIRT2049193	hsa-miR-142-5p	CLIP-seq
MIRT2049194	hsa-miR-4694-3p	CLIP-seq
MIRT2049195	hsa-miR-4708-5p	CLIP-seq
MIRT2049196	hsa-miR-522	CLIP-seq
MIRT2278287	hsa-miR-1252	CLIP-seq
MIRT2278288	hsa-miR-3140-3p	CLIP-seq
MIRT1170711	hsa-miR-3202	CLIP-seq
MIRT2278289	hsa-miR-3617	CLIP-seq
MIRT2278290	hsa-miR-3924	CLIP-seq
MIRT1170730	hsa-miR-4533	CLIP-seq
MIRT2049194	hsa-miR-4694-3p	CLIP-seq
MIRT2049195	hsa-miR-4708-5p	CLIP-seq
MIRT2278291	hsa-miR-4802-3p	CLIP-seq
MIRT2049196	hsa-miR-522	CLIP-seq
MIRT2278292	hsa-miR-587	CLIP-seq
MIRT2278293	hsa-miR-641	CLIP-seq
MIRT2391302	hsa-miR-600	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007399	Process	Nervous system development	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0048663	Process	Neuron fate commitment	ISS
GO:0048665	Process	Neuron fate specification	ISS
GO:0048666	Process	Neuron development	ISS

Other IDs

• MIM: 613084
• HGNC: 7623
• e!Ensembl: ENSG00000186487

Protein

• UniProt ID: Q9UL68
• Protein name: Myelin transcription factor 1-like protein (MyT1-L) (MyT1L)
• Protein function: Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, media
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01530	zf-C2HC	30 → 58	Zinc finger, C2HC type	Family
  PF01530	zf-C2HC	505 → 532	Zinc finger, C2HC type	Family
  PF01530	zf-C2HC	549 → 577	Zinc finger, C2HC type	Family
  PF08474	MYT1	621 → 872	Myelin transcription factor 1	Family
  PF01530	zf-C2HC	904 → 932	Zinc finger, C2HC type	Family
  PF01530	zf-C2HC	953 → 981	Zinc finger, C2HC type	Family
  PF01530	zf-C2HC	1006 → 1034	Zinc finger, C2HC type	Family

• Sequence:

  MEVDTEEKRHRTRSKGVRVPVEPAIQELFSCPTPGCDGSGHVSGKYARHRSVYGCPLAKK
  RKTQDKQPQEPAPKRKPFAVKADSSSVDECDDSDGTEDMDEKEEDEGEEYSEDNDEPGDE
  DEEDEEGDREEEEEIEEEDEDDDEDGEDVEDEEEEEEEEEEEEEEEENEDHQMNCHNTRI
  MQDTEKDDNNNDEYDNYDELVAKSLLNLGKIAEDAAYRARTESEMNSNTSNSLEDDSDKN
  ENLGRKSELSLDLDSDVVRETVDSLKLLAQGHGVVLSENMNDRNYADSMSQQDSRNMNYV
  MLGKPMNNGLMEKMVEESDEEVCLSSLECLRNQCFDLARKLSETNPQERNPQQNMNIRQH
  VRPEEDFPGRTPDRNYSDMLNLMRLEEQLSPRSRVFASCAKEDGCHERDDDTTSVNSDRS
  EEVFDMTKGNLTLLEKAIALETERAKAMREKMAMEAGRRDNMRSYEDQSPRQLPGEDRKP
  KSSDSHVKKPYYGKDPSRTEKKESKCPTPGCDGTGHVTGLYPHHRSLSGCPHKDRVPPEI
  LAMHESVLKCPTPGCTGRGHVNSNRNSHRSLSGCPIAAAEKLAKAQEKHQSCDVSKSSQA
  SDRVLRPMCFVKQLEIPQYGYRNNVPTTTPRSNLAKELEKYSKTSFEYNSYDNHTYGKRA
  IAPKVQTRDISPKGYDDAKRYCKDPSPSSSSTSSYAPSSSSNLSCGGGSSASSTCSKSSF
  DYTHDMEAAHMAATAILNLSTRCREMPQNLSTKPQDLCATRNPDMEVDENGTLDLSMNKQ
  RPRDSCCPILTPLEPMSPQQQAVMNNRCFQLGEGDCWDLPVDYTKMKPRRIDEDESKDIT
  PEDLDPFQEALEERRYPGEVTIPSPKPKYPQCKESKKDLITLSGCPLADKSIRSMLATSS
  QELKCPTPGCDGSGHITGNYASHRSLSGCPRAKKSGIRIAQSKEDKEDQEPIRCPVPGCD
  GQGHITGKYASHRSASGCPLAAKRQKDGYLNGSQFSWKSVKTEGMSCPTPGCDGSGHVSG
  SFLTHRSLSGCPRATSAMKKAKLSGEQMLTIKQRASNGIENDEEIKQLDEEIKELNESNS
  QMEADMIKLRTQITTMESNLKTIEEENKVIEQQNESLLHELANLSQSLIHSLANIQLPHM
  DPINEQNFDAYVTTLTEMYTNQDRYQSPENKALLENIKQAVRGIQV

• Sequence length: 1186

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects, ATRIAL SEPTAL DEFECT 1	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125	25294932
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	25294932
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25574825
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	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 39	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	26240977, 21990140
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	21990140, 26240977
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25574825
Schizophrenia	Schizophrenia, Schizophrenia, Childhood	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21990140, 22547139, 21923761

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Unipolar Depression, Major Depressive Disorder		21048971	ClinVar
Neuroticism	Neuroticism			GWAS
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS
Diabetic Retinopathy	Diabetic Retinopathy			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Diabetes	Diabetes			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Insomnia	Insomnia			GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Acute cholinergic dysautonomia	Associate	29453933
Alzheimer Disease	Associate	38554950
Aphasia	Associate	24129437
Asthma	Associate	35606283
Autism Spectrum Disorder	Associate	27824329, 35741772, 38136944
Autistic Disorder	Associate	22157634, 27824329, 34748075
Congenital Abnormalities	Associate	34748075
Cystitis Interstitial	Associate	30973927
Death	Associate	24015200
Depressive Disorder	Associate	22157634
Depressive Disorder Major	Associate	21048971, 35468096
Developmental Disabilities	Associate	28470180, 34748075
Epilepsy	Associate	34748075
Feeding and Eating Disorders	Associate	34748075
Fragile X Syndrome	Associate	34946857
Glioblastoma	Associate	31522595, 40362634
Glioma	Associate	34848272
Intellectual Disability	Associate	28470180, 34748075
Language Development Disorders	Associate	34748075
Learning Disabilities	Associate	34748075
Leukoencephalopathies	Associate	23412934
Mental Disorders	Associate	21048971, 24129437, 34748075, 39472790
Multiple Sclerosis	Associate	23412934
Neoplasms	Associate	14997935, 28470180, 32015217
Neoplasms	Inhibit	40362634
Neurodegenerative Diseases	Inhibit	28470180
Obesity	Associate	24129437, 32153512, 34748075
Oligodendroglioma	Associate	14997935
Overweight	Associate	34748075
Pediatric acute onset neuropsychiatric syndrome	Associate	22157634
Schizophrenia	Associate	22157634
Seizures	Associate	34946857
Stomach Neoplasms	Associate	24015200
Technophobia	Associate	33941792