QRICH1 (glutamine rich 1)

Gene

• Entrez ID: 54870
• Gene name: Glutamine rich 1
• Gene symbol: QRICH1
• Synonyms (NCBI Gene): AB-DIP, VERBRAS
• Disease Acronyms (UniProt): VERBRAS
• Chromosome: 3
• Chromosome location: 3p21.31

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1236702036	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1376687924	AGAG>-,AG	Pathogenic	Coding sequence variant, frameshift variant
rs1553738605	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553747119	GC>AA	Pathogenic	Stop gained, coding sequence variant
rs1559930732	G>A	Pathogenic	Stop gained, coding sequence variant
rs1559931177	G>A	Pathogenic	Stop gained, coding sequence variant
rs1575373920	->C	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020536	hsa-miR-155-5p	Proteomics	18668040
MIRT046431	hsa-miR-15b-5p	CLASH	23622248
MIRT045047	hsa-miR-186-5p	CLASH	23622248
MIRT439849	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439849	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1280085	hsa-miR-3157-5p	CLIP-seq
MIRT1280086	hsa-miR-3613-3p	CLIP-seq
MIRT1280087	hsa-miR-4691-3p	CLIP-seq
MIRT1280088	hsa-miR-891b	CLIP-seq
MIRT1280089	hsa-miR-1258	CLIP-seq
MIRT1280090	hsa-miR-128	CLIP-seq
MIRT1280091	hsa-miR-129-3p	CLIP-seq
MIRT1280092	hsa-miR-1295	CLIP-seq
MIRT1280093	hsa-miR-1912	CLIP-seq
MIRT1280094	hsa-miR-214	CLIP-seq
MIRT1280095	hsa-miR-2355-5p	CLIP-seq
MIRT1280096	hsa-miR-27a	CLIP-seq
MIRT1280097	hsa-miR-27b	CLIP-seq
MIRT1280098	hsa-miR-3065-5p	CLIP-seq
MIRT1280099	hsa-miR-3117-5p	CLIP-seq
MIRT1280100	hsa-miR-3133	CLIP-seq
MIRT1280101	hsa-miR-3150b-3p	CLIP-seq
MIRT1280102	hsa-miR-3173-3p	CLIP-seq
MIRT1280103	hsa-miR-3185	CLIP-seq
MIRT1280104	hsa-miR-346	CLIP-seq
MIRT1280086	hsa-miR-3613-3p	CLIP-seq
MIRT1280105	hsa-miR-3614-5p	CLIP-seq
MIRT1280106	hsa-miR-3619-5p	CLIP-seq
MIRT1280107	hsa-miR-3662	CLIP-seq
MIRT1280108	hsa-miR-3679-3p	CLIP-seq
MIRT1280109	hsa-miR-425	CLIP-seq
MIRT1280110	hsa-miR-4269	CLIP-seq
MIRT1280111	hsa-miR-4294	CLIP-seq
MIRT1280112	hsa-miR-4477b	CLIP-seq
MIRT1280113	hsa-miR-4496	CLIP-seq
MIRT1280114	hsa-miR-4514	CLIP-seq
MIRT1280115	hsa-miR-455-3p	CLIP-seq
MIRT1280116	hsa-miR-4689	CLIP-seq
MIRT1280117	hsa-miR-4692	CLIP-seq
MIRT1280118	hsa-miR-4699-5p	CLIP-seq
MIRT1280119	hsa-miR-4717-5p	CLIP-seq
MIRT1280120	hsa-miR-4742-5p	CLIP-seq
MIRT1280121	hsa-miR-4753-5p	CLIP-seq
MIRT1280122	hsa-miR-4779	CLIP-seq
MIRT1280123	hsa-miR-4784	CLIP-seq
MIRT1280124	hsa-miR-5096	CLIP-seq
MIRT1280125	hsa-miR-513a-5p	CLIP-seq
MIRT1280126	hsa-miR-518a-5p	CLIP-seq
MIRT1280127	hsa-miR-527	CLIP-seq
MIRT1280128	hsa-miR-561	CLIP-seq
MIRT1280129	hsa-miR-657	CLIP-seq
MIRT1280130	hsa-miR-668	CLIP-seq
MIRT1280131	hsa-miR-761	CLIP-seq
MIRT1280093	hsa-miR-1912	CLIP-seq
MIRT1280094	hsa-miR-214	CLIP-seq
MIRT1280099	hsa-miR-3117-5p	CLIP-seq
MIRT1280101	hsa-miR-3150b-3p	CLIP-seq
MIRT1280104	hsa-miR-346	CLIP-seq
MIRT1280106	hsa-miR-3619-5p	CLIP-seq
MIRT2082635	hsa-miR-3688-3p	CLIP-seq
MIRT2082636	hsa-miR-3978	CLIP-seq
MIRT1280109	hsa-miR-425	CLIP-seq
MIRT1280111	hsa-miR-4294	CLIP-seq
MIRT2082637	hsa-miR-4426	CLIP-seq
MIRT1280113	hsa-miR-4496	CLIP-seq
MIRT2082638	hsa-miR-4635	CLIP-seq
MIRT2082639	hsa-miR-4647	CLIP-seq
MIRT2082640	hsa-miR-4662b	CLIP-seq
MIRT1280116	hsa-miR-4689	CLIP-seq
MIRT1280118	hsa-miR-4699-5p	CLIP-seq
MIRT2082641	hsa-miR-4709-3p	CLIP-seq
MIRT1280123	hsa-miR-4784	CLIP-seq
MIRT1280126	hsa-miR-518a-5p	CLIP-seq
MIRT1280127	hsa-miR-527	CLIP-seq
MIRT1280128	hsa-miR-561	CLIP-seq
MIRT1280129	hsa-miR-657	CLIP-seq
MIRT1280131	hsa-miR-761	CLIP-seq
MIRT1280093	hsa-miR-1912	CLIP-seq
MIRT2605371	hsa-miR-2054	CLIP-seq
MIRT1280094	hsa-miR-214	CLIP-seq
MIRT1280099	hsa-miR-3117-5p	CLIP-seq
MIRT1280100	hsa-miR-3133	CLIP-seq
MIRT1280101	hsa-miR-3150b-3p	CLIP-seq
MIRT1280102	hsa-miR-3173-3p	CLIP-seq
MIRT1280103	hsa-miR-3185	CLIP-seq
MIRT2605372	hsa-miR-331-3p	CLIP-seq
MIRT1280104	hsa-miR-346	CLIP-seq
MIRT1280105	hsa-miR-3614-5p	CLIP-seq
MIRT2605373	hsa-miR-3616-5p	CLIP-seq
MIRT1280106	hsa-miR-3619-5p	CLIP-seq
MIRT2605374	hsa-miR-3647-5p	CLIP-seq
MIRT2605375	hsa-miR-4293	CLIP-seq
MIRT1280111	hsa-miR-4294	CLIP-seq
MIRT2082637	hsa-miR-4426	CLIP-seq
MIRT1280113	hsa-miR-4496	CLIP-seq
MIRT2605376	hsa-miR-4639-5p	CLIP-seq
MIRT2082639	hsa-miR-4647	CLIP-seq
MIRT2605377	hsa-miR-4659a-3p	CLIP-seq
MIRT2605378	hsa-miR-4659b-3p	CLIP-seq
MIRT2082640	hsa-miR-4662b	CLIP-seq
MIRT2605379	hsa-miR-4670-3p	CLIP-seq
MIRT1280116	hsa-miR-4689	CLIP-seq
MIRT1280118	hsa-miR-4699-5p	CLIP-seq
MIRT2605380	hsa-miR-4766-5p	CLIP-seq
MIRT1280122	hsa-miR-4779	CLIP-seq
MIRT1280123	hsa-miR-4784	CLIP-seq
MIRT2605381	hsa-miR-488	CLIP-seq
MIRT2605382	hsa-miR-511	CLIP-seq
MIRT1280126	hsa-miR-518a-5p	CLIP-seq
MIRT1280127	hsa-miR-527	CLIP-seq
MIRT1280128	hsa-miR-561	CLIP-seq
MIRT2605383	hsa-miR-573	CLIP-seq
MIRT2605384	hsa-miR-606	CLIP-seq
MIRT2605385	hsa-miR-654-3p	CLIP-seq
MIRT1280129	hsa-miR-657	CLIP-seq
MIRT1280130	hsa-miR-668	CLIP-seq
MIRT1280131	hsa-miR-761	CLIP-seq
MIRT2605386	hsa-miR-885-5p	CLIP-seq
MIRT1280093	hsa-miR-1912	CLIP-seq
MIRT2605371	hsa-miR-2054	CLIP-seq
MIRT1280094	hsa-miR-214	CLIP-seq
MIRT1280099	hsa-miR-3117-5p	CLIP-seq
MIRT1280100	hsa-miR-3133	CLIP-seq
MIRT1280101	hsa-miR-3150b-3p	CLIP-seq
MIRT1280102	hsa-miR-3173-3p	CLIP-seq
MIRT1280103	hsa-miR-3185	CLIP-seq
MIRT1280104	hsa-miR-346	CLIP-seq
MIRT1280105	hsa-miR-3614-5p	CLIP-seq
MIRT2605373	hsa-miR-3616-5p	CLIP-seq
MIRT1280106	hsa-miR-3619-5p	CLIP-seq
MIRT2605374	hsa-miR-3647-5p	CLIP-seq
MIRT2605375	hsa-miR-4293	CLIP-seq
MIRT1280111	hsa-miR-4294	CLIP-seq
MIRT2082637	hsa-miR-4426	CLIP-seq
MIRT1280113	hsa-miR-4496	CLIP-seq
MIRT2605376	hsa-miR-4639-5p	CLIP-seq
MIRT2082639	hsa-miR-4647	CLIP-seq
MIRT2605377	hsa-miR-4659a-3p	CLIP-seq
MIRT2605378	hsa-miR-4659b-3p	CLIP-seq
MIRT2082640	hsa-miR-4662b	CLIP-seq
MIRT2605379	hsa-miR-4670-3p	CLIP-seq
MIRT1280116	hsa-miR-4689	CLIP-seq
MIRT1280118	hsa-miR-4699-5p	CLIP-seq
MIRT2605380	hsa-miR-4766-5p	CLIP-seq
MIRT1280122	hsa-miR-4779	CLIP-seq
MIRT1280123	hsa-miR-4784	CLIP-seq
MIRT2605381	hsa-miR-488	CLIP-seq
MIRT2605382	hsa-miR-511	CLIP-seq
MIRT1280126	hsa-miR-518a-5p	CLIP-seq
MIRT1280127	hsa-miR-527	CLIP-seq
MIRT1280128	hsa-miR-561	CLIP-seq
MIRT2605383	hsa-miR-573	CLIP-seq
MIRT2605384	hsa-miR-606	CLIP-seq
MIRT2605385	hsa-miR-654-3p	CLIP-seq
MIRT1280129	hsa-miR-657	CLIP-seq
MIRT1280130	hsa-miR-668	CLIP-seq
MIRT1280131	hsa-miR-761	CLIP-seq
MIRT2605386	hsa-miR-885-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	25416956, 27107012, 31515488, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0008150	Process	Biological_process	ND

Other IDs

• MIM: 617387
• HGNC: 24713
• e!Ensembl: ENSG00000198218

Protein

• UniProt ID: Q2TAL8
• Protein name: Transcriptional regulator QRICH1 (Glutamine-rich protein 1)
• Protein function: Transcriptional regulator that acts as a mediator of the integrated stress response (ISR) through transcriptional control of protein homeostasis under conditions of ER stress (PubMed:33384352). Controls the outcome of the unfolded protein respon
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12012	DUF3504	599 → 759	Domain of unknown function (DUF3504)	Family

• Sequence:

  MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGN
  CIYTDSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLS
  PQLTVHQPTEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQI
  QAAEIPEEHIPHQQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTAS
  VLQPVKKRKVDMPITVSYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGT
  ITSPTGETWTIPVYSAQPRGDPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEK
  MVGTTSVVKNSHEEVVQTLANSLFPAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQ
  QPQQQTPQEQTPPPQQQQQQLQVTCSAQTVQVAEVEPQSQPQPSPELLLPNSLKPEEGLE
  VWKNWAQTKNAELEKDAQNRLAPIGRRQLLRFQEDLISSAVAELNYGLCLMTREARNGEG
  EPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVRFTEWLHEVLKDVQPRVTPLGYVLP
  SHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVDQHMKLAFSKVLRQTKKNPSN
  PKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIKLYDFYLFKCPQSVKGR
  NDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIAVANASTMH

• Sequence length: 776

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	25529582
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
Peripheral neuropathy	Peripheral Neuropathy	rs28940294, rs137852972, rs104894715, rs121918312, rs137852667, rs2101018240, rs149782619, rs397514490, rs62636502, rs797044802, rs879253752, rs879253869, rs777219451, rs538412810, rs759785462, rs1241595912, rs1553259707, rs757937208, rs144183238, rs1586128169, rs765346218
Ververi-brady syndrome	VERVERI-BRADY SYNDROME	rs1236702036, rs1553738605, rs1553747119, rs1559931177, rs1559930732, rs1376687924, rs1575373920	25529582

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	34859529
Brain Diseases	Associate	34859529
Breast Neoplasms	Associate	34895237
Congenital Abnormalities	Associate	37211757
Cyclic neutropenia	Associate	20679962
Developmental Disabilities	Associate	34859529, 37331002
Facial Dysmorphism with Multiple Malformations	Associate	37331002
Growth Disorders	Associate	34859529, 37211757, 37331002
Heart Septal Defects Atrial	Associate	37331002
Inflammation	Associate	37331002
Intellectual Disability	Associate	34859529
Learning Disabilities	Associate	37211757
Microcephaly	Associate	37211757
Muscle Hypotonia	Associate	34859529, 37331002
Polymicrogyria	Associate	37486637
Scoliosis	Associate	34859529
Seizures	Associate	34859529
Syndrome	Associate	37211757, 37331002
Weight Gain	Associate	34859529