UBA5 (ubiquitin like modifier activating enzyme 5)

Gene

• Entrez ID: 79876
• Gene name: Ubiquitin like modifier activating enzyme 5
• Gene symbol: UBA5
• Synonyms (NCBI Gene): DEE44, EIEE44, SCAR24, THIFP1, UBE1DC1
• Disease Acronyms (UniProt): DEE44, SCAR24
• Chromosome: 3
• Chromosome location: 3q22.1
• Summary: This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing r

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT649462	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT497862	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT497861	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT649461	hsa-miR-6131	HITS-CLIP	23824327
MIRT497860	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT497859	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT497858	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT531728	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT531727	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT497863	hsa-miR-3653-5p	PAR-CLIP	22012620
MIRT497862	hsa-miR-6790-3p	PAR-CLIP	22012620
MIRT497861	hsa-miR-6821-3p	PAR-CLIP	22012620
MIRT497860	hsa-miR-378a-5p	PAR-CLIP	22012620
MIRT497859	hsa-miR-192-5p	PAR-CLIP	22012620
MIRT497858	hsa-miR-215-5p	PAR-CLIP	22012620
MIRT531728	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT531727	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT497863	hsa-miR-3653-5p	PAR-CLIP	22291592
MIRT497862	hsa-miR-6790-3p	PAR-CLIP	22291592
MIRT497861	hsa-miR-6821-3p	PAR-CLIP	22291592
MIRT497860	hsa-miR-378a-5p	PAR-CLIP	22291592
MIRT497859	hsa-miR-192-5p	PAR-CLIP	22291592
MIRT497858	hsa-miR-215-5p	PAR-CLIP	22291592
MIRT649462	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT497862	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT497861	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT649461	hsa-miR-6131	HITS-CLIP	23824327
MIRT497860	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT497859	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT497858	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT531728	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT531727	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT497863	hsa-miR-3653-5p	PAR-CLIP	22012620
MIRT497862	hsa-miR-6790-3p	PAR-CLIP	22012620
MIRT497861	hsa-miR-6821-3p	PAR-CLIP	22012620
MIRT497860	hsa-miR-378a-5p	PAR-CLIP	22012620
MIRT497859	hsa-miR-192-5p	PAR-CLIP	22012620
MIRT497858	hsa-miR-215-5p	PAR-CLIP	22012620
MIRT531728	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT531727	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT497863	hsa-miR-3653-5p	PAR-CLIP	22291592
MIRT497862	hsa-miR-6790-3p	PAR-CLIP	22291592
MIRT497861	hsa-miR-6821-3p	PAR-CLIP	22291592
MIRT497860	hsa-miR-378a-5p	PAR-CLIP	22291592
MIRT497859	hsa-miR-192-5p	PAR-CLIP	22291592
MIRT497858	hsa-miR-215-5p	PAR-CLIP	22291592
MIRT1466513	hsa-miR-323b-3p	CLIP-seq
MIRT1466514	hsa-miR-499a-5p	CLIP-seq
MIRT1466515	hsa-miR-1305	CLIP-seq
MIRT1466516	hsa-miR-2117	CLIP-seq
MIRT2360989	hsa-miR-4307	CLIP-seq
MIRT2654490	hsa-miR-1243	CLIP-seq
MIRT2654491	hsa-miR-1290	CLIP-seq
MIRT1466515	hsa-miR-1305	CLIP-seq
MIRT2654492	hsa-miR-1306	CLIP-seq
MIRT2654493	hsa-miR-1827	CLIP-seq
MIRT2654494	hsa-miR-224	CLIP-seq
MIRT2654495	hsa-miR-2355-3p	CLIP-seq
MIRT2654496	hsa-miR-2467-3p	CLIP-seq
MIRT2654497	hsa-miR-2682	CLIP-seq
MIRT2654498	hsa-miR-3145-5p	CLIP-seq
MIRT2654499	hsa-miR-3175	CLIP-seq
MIRT2654500	hsa-miR-3613-3p	CLIP-seq
MIRT2654501	hsa-miR-361-3p	CLIP-seq
MIRT2654502	hsa-miR-3654	CLIP-seq
MIRT2654503	hsa-miR-3667-3p	CLIP-seq
MIRT2654504	hsa-miR-3678-3p	CLIP-seq
MIRT2654505	hsa-miR-3679-3p	CLIP-seq
MIRT2654506	hsa-miR-383	CLIP-seq
MIRT2654507	hsa-miR-3926	CLIP-seq
MIRT2654508	hsa-miR-3978	CLIP-seq
MIRT2654509	hsa-miR-421	CLIP-seq
MIRT2654510	hsa-miR-4266	CLIP-seq
MIRT2654511	hsa-miR-4286	CLIP-seq
MIRT2360989	hsa-miR-4307	CLIP-seq
MIRT2654512	hsa-miR-4317	CLIP-seq
MIRT2654513	hsa-miR-4424	CLIP-seq
MIRT2654514	hsa-miR-4457	CLIP-seq
MIRT2654515	hsa-miR-449c	CLIP-seq
MIRT2654516	hsa-miR-4646-3p	CLIP-seq
MIRT2654517	hsa-miR-4700-3p	CLIP-seq
MIRT2654518	hsa-miR-4706	CLIP-seq
MIRT2654519	hsa-miR-4709-5p	CLIP-seq
MIRT2654520	hsa-miR-4731-3p	CLIP-seq
MIRT2654521	hsa-miR-4742-5p	CLIP-seq
MIRT2654522	hsa-miR-4749-5p	CLIP-seq
MIRT2654523	hsa-miR-4753-5p	CLIP-seq
MIRT2654524	hsa-miR-4781-5p	CLIP-seq
MIRT2654525	hsa-miR-4801	CLIP-seq
MIRT2654526	hsa-miR-494	CLIP-seq
MIRT2654527	hsa-miR-5095	CLIP-seq
MIRT2654528	hsa-miR-513a-5p	CLIP-seq
MIRT2654529	hsa-miR-548l	CLIP-seq
MIRT2654530	hsa-miR-548n	CLIP-seq
MIRT2654531	hsa-miR-569	CLIP-seq
MIRT2654532	hsa-miR-607	CLIP-seq
MIRT2654533	hsa-miR-616	CLIP-seq
MIRT2654534	hsa-miR-651	CLIP-seq
MIRT2654535	hsa-miR-676	CLIP-seq
MIRT2654536	hsa-miR-875-3p	CLIP-seq
MIRT2654490	hsa-miR-1243	CLIP-seq
MIRT1466515	hsa-miR-1305	CLIP-seq
MIRT2654492	hsa-miR-1306	CLIP-seq
MIRT2654495	hsa-miR-2355-3p	CLIP-seq
MIRT2654498	hsa-miR-3145-5p	CLIP-seq
MIRT2654499	hsa-miR-3175	CLIP-seq
MIRT2654501	hsa-miR-361-3p	CLIP-seq
MIRT2654502	hsa-miR-3654	CLIP-seq
MIRT2654503	hsa-miR-3667-3p	CLIP-seq
MIRT2654505	hsa-miR-3679-3p	CLIP-seq
MIRT2654506	hsa-miR-383	CLIP-seq
MIRT2654507	hsa-miR-3926	CLIP-seq
MIRT2654508	hsa-miR-3978	CLIP-seq
MIRT2654509	hsa-miR-421	CLIP-seq
MIRT2654510	hsa-miR-4266	CLIP-seq
MIRT2654511	hsa-miR-4286	CLIP-seq
MIRT2360989	hsa-miR-4307	CLIP-seq
MIRT2654513	hsa-miR-4424	CLIP-seq
MIRT2654514	hsa-miR-4457	CLIP-seq
MIRT2654516	hsa-miR-4646-3p	CLIP-seq
MIRT2654517	hsa-miR-4700-3p	CLIP-seq
MIRT2654518	hsa-miR-4706	CLIP-seq
MIRT2654519	hsa-miR-4709-5p	CLIP-seq
MIRT2654520	hsa-miR-4731-3p	CLIP-seq
MIRT2654521	hsa-miR-4742-5p	CLIP-seq
MIRT2654522	hsa-miR-4749-5p	CLIP-seq
MIRT2654523	hsa-miR-4753-5p	CLIP-seq
MIRT2654524	hsa-miR-4781-5p	CLIP-seq
MIRT2654525	hsa-miR-4801	CLIP-seq
MIRT2654527	hsa-miR-5095	CLIP-seq
MIRT2654531	hsa-miR-569	CLIP-seq
MIRT2654534	hsa-miR-651	CLIP-seq
MIRT2654535	hsa-miR-676	CLIP-seq
MIRT2654536	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 20562859, 21900206, 25416956, 26496610, 26872069, 27653677, 28514442, 29295865, 29868776, 30412706, 30990354, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	26872069
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30990354
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0008270	Function	Zinc ion binding	IDA	27653677, 30412706
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030219	Process	Megakaryocyte differentiation	ISS
GO:0032446	Process	Protein modification by small protein conjugation	IBA	21873635
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IMP	25219498
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	23152784
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	32160526
GO:0042803	Function	Protein homodimerization activity	IDA	27653677, 29295865
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0050905	Process	Neuromuscular process	IGI	26872069
GO:0061709	Process	Reticulophagy	IMP	32160526
GO:0071566	Function	UFM1 activating enzyme activity	IBA	21873635
GO:0071566	Function	UFM1 activating enzyme activity	IDA	15071506, 27653677, 29295865, 30412706
GO:0071566	Function	UFM1 activating enzyme activity	IMP	27545681
GO:0071569	Process	Protein ufmylation	IBA	21873635
GO:0071569	Process	Protein ufmylation	IDA	15071506, 27653677, 29295865, 30412706
GO:0071569	Process	Protein ufmylation	IMP	23152784, 27545681, 32160526
GO:1990592	Process	Protein K69-linked ufmylation	IDA	25219498

Other IDs

• MIM: 610552
• HGNC: 23230
• e!Ensembl: ENSG00000081307

Protein

• UniProt ID: Q9GZZ9
• Protein name: Ubiquitin-like modifier-activating enzyme 5 (Ubiquitin-activating enzyme 5) (ThiFP1) (UFM1-activating enzyme) (Ubiquitin-activating enzyme E1 domain-containing protein 1)
• Protein function: E1-like enzyme which specifically catalyzes the first step in ufmylation (PubMed:15071506, PubMed:18442052, PubMed:20368332, PubMed:25219498, PubMed:26929408, PubMed:27545674, PubMed:27545681, PubMed:27653677, PubMed:30412706, PubMed:30626644, P
• PDB: 3GUC, 3H8V, 5HKH, 5IA8, 5IAA, 5L95, 6H77, 6H78, 6H8C, 7NVK, 7NW1, 7OVC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00899	ThiF	53 → 310	ThiF family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16328888}.
• Sequence:

  MAESVERLQQRVQELERELAQERSLQVPRSGDGGGGRVRIEKMSSEVVDSNPYSRLMALK
  RMGIVSDYEKIRTFAVAIVGVGGVGSVTAEMLTRCGIGKLLLFDYDKVELANMNRLFFQP
  HQAGLSKVQAAEHTLRNINPDVLFEVHNYNITTVENFQHFMDRISNGGLEEGKPVDLVLS
  CVDNFEARMTINTACNELGQTWMESGVSENAVSGHIQLIIPGESACFACAPPLVVAANID
  EKTLKREGVCAASLPTTMGVVAGILVQNVLKFLLNFGTVSFYLGYNAMQDFFPTMSMKPN
  PQCDDRNCRKQQEEYKKKVAALPKQEVIQEEEEIIHEDNEWGIELVSEVSEEELKNFSGP
  VPDLPEGITVAYTIPKKQEDSVTELTVEDSGESLEDLMAKMKNM

• Sequence length: 404

Pathways

Reactome:

Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	26872069
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	26881866
Developmental delay	Global developmental delay, Profound global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	27545681, 27545674
Mental retardation	Severe intellectual disability, 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	27545681
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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Developmental And Epileptic Encephalopathy	developmental and epileptic encephalopathy, 44			GenCC
Spinocerebellar Ataxia	spinocerebellar ataxia, autosomal recessive 24			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	32179706, 33811063
Brain Diseases	Associate	28965491, 29868776, 33811063
Breast Neoplasms	Associate	31171715, 35680375
Breast Neoplasms	Stimulate	34572561
Charcot Marie Tooth disease Type 4E	Associate	32179706
Developmental Disabilities	Associate	33811063
Dystonia	Associate	33811063
Epilepsy	Associate	32179706, 33811063
Intellectual Disability	Associate	32179706
Microcephaly	Associate	29868776
Movement Disorders	Associate	32179706, 33811063
Muscle Hypotonia	Associate	33811063
Neoplasms	Associate	34572561
Peripheral Nervous System Diseases	Associate	32179706
Spasms Infantile	Associate	28965491