ATN1 (atrophin 1)

Gene

• Entrez ID: 1822
• Gene name: Atrophin 1
• Gene symbol: ATN1
• Synonyms (NCBI Gene): B37, CHEDDA, D12S755E, DRPLA, HRS, NOD
• Disease Acronyms (UniProt): CHEDDA, DRPLA
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs60216939	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA>-,GCA,GCAGCA,GCAGCAGCA,GCAGCAGCAGCA,GCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAG	Conflicting-interpretations-of-pathogenicity, benign	Inframe insertion, coding sequence variant, inframe deletion
rs797044566	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1064795494	->AACCTG,GACCTG	Uncertain-significance, pathogenic	Inframe insertion, coding sequence variant
rs1555144357	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555144358	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555144360	T>G	Pathogenic	Missense variant, coding sequence variant
rs1565569158	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050303	hsa-miR-25-3p	CLASH	23622248
MIRT050031	hsa-miR-27a-3p	CLASH	23622248
MIRT046183	hsa-miR-27b-3p	CLASH	23622248
MIRT045454	hsa-miR-149-5p	CLASH	23622248
MIRT042044	hsa-miR-484	CLASH	23622248
MIRT040408	hsa-miR-615-3p	CLASH	23622248
MIRT038277	hsa-miR-361-3p	CLASH	23622248
MIRT038080	hsa-miR-423-5p	CLASH	23622248
MIRT037953	hsa-miR-505-5p	CLASH	23622248
MIRT036202	hsa-miR-320b	CLASH	23622248
MIRT806141	hsa-miR-1185	CLIP-seq
MIRT806142	hsa-miR-1207-5p	CLIP-seq
MIRT806143	hsa-miR-1224-3p	CLIP-seq
MIRT806144	hsa-miR-1228	CLIP-seq
MIRT806145	hsa-miR-1245b-3p	CLIP-seq
MIRT806146	hsa-miR-1265	CLIP-seq
MIRT806147	hsa-miR-1294	CLIP-seq
MIRT806148	hsa-miR-1343	CLIP-seq
MIRT806149	hsa-miR-1909	CLIP-seq
MIRT806150	hsa-miR-3130-3p	CLIP-seq
MIRT806151	hsa-miR-3150a-3p	CLIP-seq
MIRT806152	hsa-miR-3160-5p	CLIP-seq
MIRT806153	hsa-miR-3175	CLIP-seq
MIRT806154	hsa-miR-3180	CLIP-seq
MIRT806155	hsa-miR-3180-3p	CLIP-seq
MIRT806156	hsa-miR-3184	CLIP-seq
MIRT806157	hsa-miR-3196	CLIP-seq
MIRT806158	hsa-miR-34b	CLIP-seq
MIRT806159	hsa-miR-3605-5p	CLIP-seq
MIRT806160	hsa-miR-3658	CLIP-seq
MIRT806161	hsa-miR-3679-5p	CLIP-seq
MIRT806162	hsa-miR-3960	CLIP-seq
MIRT806163	hsa-miR-4286	CLIP-seq
MIRT806164	hsa-miR-4307	CLIP-seq
MIRT806165	hsa-miR-4315	CLIP-seq
MIRT806166	hsa-miR-4316	CLIP-seq
MIRT806167	hsa-miR-4425	CLIP-seq
MIRT806168	hsa-miR-4467	CLIP-seq
MIRT806169	hsa-miR-450b-3p	CLIP-seq
MIRT806170	hsa-miR-4652-3p	CLIP-seq
MIRT806171	hsa-miR-4667-5p	CLIP-seq
MIRT806172	hsa-miR-4691-3p	CLIP-seq
MIRT806173	hsa-miR-4700-5p	CLIP-seq
MIRT806174	hsa-miR-4728-5p	CLIP-seq
MIRT806175	hsa-miR-4763-3p	CLIP-seq
MIRT806176	hsa-miR-4778-5p	CLIP-seq
MIRT806177	hsa-miR-4793-3p	CLIP-seq
MIRT806178	hsa-miR-486-3p	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq
MIRT806180	hsa-miR-769-3p	CLIP-seq
MIRT806181	hsa-miR-933	CLIP-seq
MIRT806182	hsa-miR-939	CLIP-seq
MIRT806183	hsa-miR-3145-3p	CLIP-seq
MIRT806160	hsa-miR-3658	CLIP-seq
MIRT806184	hsa-miR-410	CLIP-seq
MIRT806185	hsa-miR-944	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq
MIRT806176	hsa-miR-4778-5p	CLIP-seq
MIRT806164	hsa-miR-4307	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq
MIRT806142	hsa-miR-1207-5p	CLIP-seq
MIRT806143	hsa-miR-1224-3p	CLIP-seq
MIRT806144	hsa-miR-1228	CLIP-seq
MIRT806149	hsa-miR-1909	CLIP-seq
MIRT2177525	hsa-miR-2110	CLIP-seq
MIRT2177526	hsa-miR-2467-3p	CLIP-seq
MIRT806150	hsa-miR-3130-3p	CLIP-seq
MIRT2177527	hsa-miR-3147	CLIP-seq
MIRT2177528	hsa-miR-3151	CLIP-seq
MIRT2177529	hsa-miR-3178	CLIP-seq
MIRT2177530	hsa-miR-3179	CLIP-seq
MIRT806154	hsa-miR-3180	CLIP-seq
MIRT806155	hsa-miR-3180-3p	CLIP-seq
MIRT806156	hsa-miR-3184	CLIP-seq
MIRT806157	hsa-miR-3196	CLIP-seq
MIRT2177531	hsa-miR-3202	CLIP-seq
MIRT2177532	hsa-miR-3591-5p	CLIP-seq
MIRT2177533	hsa-miR-3622b-5p	CLIP-seq
MIRT2177534	hsa-miR-3678-3p	CLIP-seq
MIRT2177535	hsa-miR-3945	CLIP-seq
MIRT806162	hsa-miR-3960	CLIP-seq
MIRT2177536	hsa-miR-4253	CLIP-seq
MIRT2177537	hsa-miR-4271	CLIP-seq
MIRT806163	hsa-miR-4286	CLIP-seq
MIRT2177538	hsa-miR-4447	CLIP-seq
MIRT806168	hsa-miR-4467	CLIP-seq
MIRT2177539	hsa-miR-4472	CLIP-seq
MIRT2177540	hsa-miR-4488	CLIP-seq
MIRT2177541	hsa-miR-4688	CLIP-seq
MIRT2177542	hsa-miR-4697-5p	CLIP-seq
MIRT2177543	hsa-miR-4725-3p	CLIP-seq
MIRT806174	hsa-miR-4728-5p	CLIP-seq
MIRT2177544	hsa-miR-4747-5p	CLIP-seq
MIRT806175	hsa-miR-4763-3p	CLIP-seq
MIRT806177	hsa-miR-4793-3p	CLIP-seq
MIRT806178	hsa-miR-486-3p	CLIP-seq
MIRT2177545	hsa-miR-491-5p	CLIP-seq
MIRT2177546	hsa-miR-648	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10973986
GO:0001085	Function	RNA polymerase II transcription factor binding	IBA	21873635
GO:0003714	Function	Transcription corepressor activity	IBA	21873635
GO:0003714	Function	Transcription corepressor activity	IDA	10973986
GO:0005515	Function	Protein binding	IPI	9647693, 10973986, 16713569, 17577209, 19131340, 20696395, 24981860, 27705803, 28514442
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	10085113
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	TAS	7647802
GO:0007417	Process	Central nervous system development	TAS	7647802
GO:0016363	Component	Nuclear matrix	IDA	10973986
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0030054	Component	Cell junction	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051402	Process	Neuron apoptotic process	IDA	10085113

Other IDs

• MIM: 607462
• HGNC: 3033
• e!Ensembl: ENSG00000111676

Protein

• UniProt ID: P54259
• Protein name: Atrophin-1 (Dentatorubral-pallidoluysian atrophy protein)
• Protein function: Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03154	Atrophin-1	1 → 159	Atrophin-1 family	Disordered
  PF03154	Atrophin-1	403 → 1189	Atrophin-1 family	Disordered

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus c
• Sequence:

  MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVE
  EASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQSPSDLDSLDGRSLNDDGSSD
  PRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPE
  ASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQLYPGGTGGVLSGPPMGPKGGGA
  ASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPVGGGNLPSAPPPANFPHVTPN
  LPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLP
  PASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFPASQALPSYPHSFPPPTSLSV
  SNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHH
  HHHQQQQQQQQQQQQQQQQQQQHHGNSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLR
  PYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYP
  FPPVPTVTTSSATLSTVIATVASSPAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPG
  SPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPAGPSGLPSLPPPPAAPASGPP
  LSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARS
  DLYFVPLEGSKLAKKRADLVEKVRREAEQRAREEKEREREREREKEREREKERELERSVK
  LAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNR
  NHPFYVPLGAVDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPL
  HGVPGPGLDPFPRHGGLALQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAER
  LAAERQHAERVAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLI
  DPLASGSHLTRIPYPAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQL
  QAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL

• Sequence length: 1190

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Action myoclonus-renal failure syndrome	Action Myoclonus-Renal Failure Syndrome	rs727502772, rs727502773, rs121909118, rs121909119, rs727502781, rs727502782, rs200053119, rs886041078, rs886041077, rs886041076, rs886041075, rs995674389, rs1553948516, rs1578733075
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Dentatorubral pallidoluysian atrophy	Dentatorubral-Pallidoluysian Atrophy, Dentatorubral pallidoluysian atrophy	rs60216939
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	30827498
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	30827498
Myoclonic epilepsy	Familial Progressive Myoclonic Epilepsy, Myoclonic Epilepsies, Progressive	rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Recurrent otitis media			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired Immunodeficiency Syndrome	Associate	22077229
Alzheimer Disease	Associate	32271912
Anorchia	Associate	14967857
Athetosis	Associate	14967857
Blau syndrome	Associate	19116920
Carcinogenesis	Associate	25933107
CHARGE Syndrome	Associate	29330883
Cognition Disorders	Associate	30827498
Crohn Disease	Associate	33232439
Daneman Davy Mancer syndrome	Associate	29330883
Developmental Disabilities	Associate	30827498, 37491839, 38262122
Diabetes Mellitus Type 2	Associate	27508393, 32271912, 37223012
Drug Related Side Effects and Adverse Reactions	Associate	10085113
Drug Resistant Epilepsy	Associate	38262122
Epilepsies Myoclonic	Associate	14967857
Epilepsy	Associate	30827498
Epileptic Encephalopathy Early Infantile 3	Associate	38262122
Failure to Thrive	Associate	37491839
Genetic Diseases Inborn	Associate	30933216
Hearing Loss Sensorineural	Associate	29330883
Heart Defects Congenital	Associate	27622570, 29330883
Inflammation	Associate	19587002, 25922834, 27622570, 28617818, 34978330
Inflammatory Bowel Diseases	Associate	28422189, 34978330
Intellectual Disability	Associate	14967857
Liver Diseases	Associate	32271912
Machado Joseph Disease	Associate	24972706
Microcephaly	Associate	37491839
Muscle Hypotonia	Associate	30827498, 37491839
Myoclonic Epilepsies Progressive	Associate	10085113, 10567506, 14967857, 21909428, 24981774, 29686598, 30827498, 31374462, 31493762, 33106889, 8965642
Myotonic Dystrophy	Associate	37223012
Neuroacanthocytosis	Associate	39292690
Neurocognitive Disorders	Associate	30827498
Orofaciodigital syndrome 9	Associate	30827498
Parkinsonism Dystonia Infantile	Associate	37491839
Polycythemia Vera	Associate	28427458
Pulmonary Disease Chronic Obstructive	Associate	28057018
Seizures	Associate	38262122
Spasm	Associate	38262122
Surgical Wound Infection	Associate	27622570
Tn Syndrome	Associate	33232439
Wrist Fractures	Associate	8965642