NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)

Gene

• Entrez ID: 378884
• Gene name: NHL repeat containing E3 ubiquitin protein ligase 1
• Gene symbol: NHLRC1
• Synonyms (NCBI Gene): EPM2A, EPM2B, MALIN, MELF2, bA204B7.2
• Disease Acronyms (UniProt): MELF2
• Chromosome: 6
• Chromosome location: 6p22.3
• Summary: The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940575	A>T	Pathogenic	Missense variant, coding sequence variant
rs28940576	G>C	Pathogenic	Missense variant, coding sequence variant
rs121917875	G>A,C,T	Pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs121917876	A>T	Pathogenic	Missense variant, coding sequence variant
rs137852859	T>G	Pathogenic	Missense variant, coding sequence variant
rs139029314	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs140850172	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143537405	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146636139	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200201752	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs200595273	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587776542	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776543	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs750465793	G>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs757954108	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs769301934	C>T	Pathogenic	Coding sequence variant, missense variant
rs794726964	C>A	Pathogenic	Stop gained, coding sequence variant
rs796052758	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1157872508	A>-,AA	Pathogenic	Stop gained, coding sequence variant, frameshift variant
rs1369766718	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1403101337	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1554136433	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554136440	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1582030118	GCGCGCAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1184312	hsa-miR-101	CLIP-seq
MIRT1184313	hsa-miR-1285	CLIP-seq
MIRT1184314	hsa-miR-151-5p	CLIP-seq
MIRT1184315	hsa-miR-151b	CLIP-seq
MIRT1184316	hsa-miR-224	CLIP-seq
MIRT1184317	hsa-miR-3131	CLIP-seq
MIRT1184318	hsa-miR-3187-5p	CLIP-seq
MIRT1184319	hsa-miR-3190	CLIP-seq
MIRT1184320	hsa-miR-3202	CLIP-seq
MIRT1184321	hsa-miR-3659	CLIP-seq
MIRT1184322	hsa-miR-3664-3p	CLIP-seq
MIRT1184323	hsa-miR-3672	CLIP-seq
MIRT1184324	hsa-miR-3689a-3p	CLIP-seq
MIRT1184325	hsa-miR-3689c	CLIP-seq
MIRT1184326	hsa-miR-3929	CLIP-seq
MIRT1184327	hsa-miR-421	CLIP-seq
MIRT1184328	hsa-miR-4281	CLIP-seq
MIRT1184329	hsa-miR-4419b	CLIP-seq
MIRT1184330	hsa-miR-4433	CLIP-seq
MIRT1184331	hsa-miR-4459	CLIP-seq
MIRT1184332	hsa-miR-4478	CLIP-seq
MIRT1184333	hsa-miR-4533	CLIP-seq
MIRT1184334	hsa-miR-4536	CLIP-seq
MIRT1184335	hsa-miR-4643	CLIP-seq
MIRT1184336	hsa-miR-4645-3p	CLIP-seq
MIRT1184337	hsa-miR-4658	CLIP-seq
MIRT1184338	hsa-miR-466	CLIP-seq
MIRT1184339	hsa-miR-4680-5p	CLIP-seq
MIRT1184340	hsa-miR-4709-5p	CLIP-seq
MIRT1184341	hsa-miR-4728-5p	CLIP-seq
MIRT1184342	hsa-miR-4768-3p	CLIP-seq
MIRT1184343	hsa-miR-4786-5p	CLIP-seq
MIRT1184344	hsa-miR-4789-3p	CLIP-seq
MIRT1184345	hsa-miR-485-5p	CLIP-seq
MIRT1184346	hsa-miR-510	CLIP-seq
MIRT1184347	hsa-miR-548u	CLIP-seq
MIRT1184348	hsa-miR-574-5p	CLIP-seq
MIRT1184349	hsa-miR-611	CLIP-seq
MIRT1184350	hsa-miR-612	CLIP-seq
MIRT1184351	hsa-miR-661	CLIP-seq
MIRT1184352	hsa-miR-769-5p	CLIP-seq
MIRT1184353	hsa-miR-890	CLIP-seq
MIRT2053448	hsa-miR-1183	CLIP-seq
MIRT1184324	hsa-miR-3689a-3p	CLIP-seq
MIRT1184325	hsa-miR-3689c	CLIP-seq
MIRT1184341	hsa-miR-4728-5p	CLIP-seq
MIRT2053449	hsa-miR-4738-3p	CLIP-seq
MIRT2053450	hsa-miR-548g	CLIP-seq
MIRT1184353	hsa-miR-890	CLIP-seq
MIRT1184322	hsa-miR-3664-3p	CLIP-seq
MIRT1184324	hsa-miR-3689a-3p	CLIP-seq
MIRT1184325	hsa-miR-3689c	CLIP-seq
MIRT2282663	hsa-miR-4452	CLIP-seq
MIRT2282664	hsa-miR-4727-5p	CLIP-seq
MIRT1184341	hsa-miR-4728-5p	CLIP-seq
MIRT2282665	hsa-miR-4769-3p	CLIP-seq
MIRT1184346	hsa-miR-510	CLIP-seq
MIRT1184351	hsa-miR-661	CLIP-seq
MIRT2391538	hsa-miR-1229	CLIP-seq
MIRT2391539	hsa-miR-1262	CLIP-seq
MIRT2391540	hsa-miR-193a-5p	CLIP-seq
MIRT2391541	hsa-miR-3130-3p	CLIP-seq
MIRT1184322	hsa-miR-3664-3p	CLIP-seq
MIRT1184323	hsa-miR-3672	CLIP-seq
MIRT1184324	hsa-miR-3689a-3p	CLIP-seq
MIRT1184325	hsa-miR-3689c	CLIP-seq
MIRT2391542	hsa-miR-4264	CLIP-seq
MIRT2391543	hsa-miR-4328	CLIP-seq
MIRT1184330	hsa-miR-4433	CLIP-seq
MIRT1184331	hsa-miR-4459	CLIP-seq
MIRT2391544	hsa-miR-4701-3p	CLIP-seq
MIRT1184341	hsa-miR-4728-5p	CLIP-seq
MIRT1184342	hsa-miR-4768-3p	CLIP-seq
MIRT2391545	hsa-miR-4793-3p	CLIP-seq
MIRT2391546	hsa-miR-4797-3p	CLIP-seq
MIRT2391547	hsa-miR-508-5p	CLIP-seq
MIRT2391548	hsa-miR-542-3p	CLIP-seq
MIRT2391549	hsa-miR-544	CLIP-seq
MIRT1184351	hsa-miR-661	CLIP-seq
MIRT2391550	hsa-miR-766	CLIP-seq
MIRT2282664	hsa-miR-4727-5p	CLIP-seq
MIRT2282665	hsa-miR-4769-3p	CLIP-seq
MIRT2282664	hsa-miR-4727-5p	CLIP-seq
MIRT2282665	hsa-miR-4769-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA	21873635
GO:0000209	Process	Protein polyubiquitination	IDA	15930137
GO:0004842	Function	Ubiquitin-protein transferase activity	EXP	15930137
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	15930137, 18070875
GO:0005515	Function	Protein binding	IPI	15930137, 17908927, 21505799, 22578008, 22961547
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	17908927
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005978	Process	Glycogen biosynthetic process	TAS
GO:0006914	Process	Autophagy	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15930137
GO:0045859	Process	Regulation of protein kinase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA	21873635
GO:1903076	Process	Regulation of protein localization to plasma membrane	IEA

Other IDs

• MIM: 608072
• HGNC: 21576
• e!Ensembl: ENSG00000187566

Protein

• UniProt ID: Q6VVB1
• Protein name: E3 ubiquitin-protein ligase NHLRC1 (EC 2.3.2.27) (Malin) (NHL repeat-containing protein 1) (RING-type E3 ubiquitin transferase NHLRC1)
• Protein function: E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellula
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14634	zf-RING_5	25 → 73	zinc-RING finger domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:12958597}.
• Sequence:

  MAAEASESGPALHELMREAEISLLECKVCFEKFGHRQQRRPRNLSCGHVVCLACVAALAH
  PRTLALECPFCRRACRGCDTSDCLPVLHLIELLGSALRQSPAAHRAAPSAPGALTCHHTF
  GGWGTLVNPTGLALCPKTGRVVVVHDGRRRVKIFDSGGGCAHQFGEKGDAAQDIRYPVDV
  TITNDCHVVVTDAGDRSIKVFDFFGQIKLVIGGQFSLPWGVETTPQNGIVVTDAEAGSLH
  LLDVDFAEGVLRRTERLQAHLCNPRGVAVSWLTGAIAVLEHPLALGTGVCSTRVKVFSSS
  MQLVGQVDTFGLSLYFPSKITASAVTFDHQGNVIVADTSGPAILCLGKPEEFPVPKPMVT
  HGLSHPVALTFTKENSLLVLDTASHSIKVYKVDWG

• Sequence length: 395

Pathways

KEGG:

Ubiquitin mediated proteolysis

Reactome:

Glycogen synthesis
Myoclonic epilepsy of Lafora

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	25401298
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Dentatorubral pallidoluysian atrophy	Dentatorubral-Pallidoluysian Atrophy	rs60216939	25401298
Glycogen storage disease	Glycogen Storage Disease	rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691, rs121918193, rs121918195, rs121918196, rs116987552, rs119103251, rs119103252, rs119103253, rs119103254, rs144081869, rs119103255, rs786200874, rs267606993, rs119103257, rs119103258, rs119103259, rs119103260, rs1474863903, rs764313717, rs397515342, rs80338671, rs137852886, rs80338672, rs137852888, rs80338673, rs397515343, rs137852889, rs137852890, rs137852891, rs1575782181, rs137852892, rs397515344, rs137852894, rs121907936, rs121907937, rs28937909, rs121907938, rs121907940, rs121907941, rs386834236, rs121907939, rs28940868, rs1555603048, rs121907942, rs386834235, rs121907943, rs121907945, rs121908987, rs121908991, rs267606977, rs137852546, rs137852547, rs1603266754, rs137852548, rs137852528, rs137852529, rs431905501, rs137852531, rs137852532, rs137852533, rs137852535, rs137852536, rs137852537, rs137852538, rs431905503, rs137852539, rs137852285, rs137852286, rs587776731, rs137852287, rs137852288, rs587776732, rs137852293, rs137852289, rs137852290, rs137852291, rs137852292, rs137852294, rs587776733, rs2147483647, rs137852295, rs113993982, rs113993974, rs113993977, rs113993981, rs80356488, rs1801175, rs104894563, rs80356487, rs104894566, rs587776757, rs80356484, rs104894565, rs104894567, rs104894568, rs104894569, rs80356482, rs1801176, rs104894571, rs34667348, rs797044442, rs121918021, rs137853588, rs137853589, rs137853590, rs1596680941, rs137853591, rs137853592, rs121918419, rs587776831, rs121918420, rs121918421, rs121918422, rs121918423, rs121918424, rs121434584, rs80356485, rs80356479, rs80356483, rs113994130, rs113994131, rs113993978, rs113993979, rs113993986, rs113993973, rs113993975, rs387906505, rs113993976, rs199948078, rs193922697, rs397514631, rs1325298827, rs140869027, rs398123169, rs398123171, rs398123172, rs369532274, rs398123173, rs398123174, rs398124208, rs398124209, rs398124210, rs587777375, rs527236146, rs527236147, rs370652040, rs143137713, rs727502871, rs369531647, rs730880022, rs730880372, rs201958741, rs730882148, rs796051877, rs752921215, rs786204489, rs781580050, rs771961377, rs370792293, rs786204678, rs786204616, rs786204481, rs786204490, rs776977863, rs786204595, rs786204655, rs769960481, rs767739769, rs786204723, rs755117847, rs764920787, rs780226142, rs367727229, rs786204467, rs201185475, rs786204614, rs786204661, rs767882689, rs528367092, rs370950728, rs757700700, rs786204532, rs201896815, rs543300039, rs786204507, rs786204646, rs786204517, rs770610356, rs770276275, rs147804176, rs772883420, rs140826989, rs786204720, rs786204727, rs781088002, rs549029029, rs368438393, rs536906561, rs374143224, rs757111744, rs786204621, rs786204645, rs786204549, rs780321415, rs786204561, rs202143236, rs786204785, rs374470794, rs771427957, rs150547274, rs113994127, rs193186112, rs794727706, rs794729208, rs797045008, rs192044702, rs797044877, rs150382575, rs201157731, rs863224023, rs869312919, rs764622267, rs878855017, rs1800312, rs886039883, rs886041476, rs779556619, rs757617999, rs143523371, rs886042086, rs201201443, rs886042358, rs761317813, rs142752477, rs142967546, rs766074609, rs770590394, rs144016984, rs886043148, rs778032599, rs886043343, rs886043399, rs886043920, rs775450536, rs755253527, rs758004953, rs766935302, rs886058900, rs1057516189, rs1057516870, rs1057517057, rs1057516567, rs1057517347, rs1057517243, rs777857395, rs1057516868, rs757967016, rs1057516308, rs1057517344, rs1057516397, rs1057516471, rs748789700, rs763554006, rs1057516741, rs1057516948, rs1057516913, rs1057516570, rs1057516563, rs1057516708, rs1057516666, rs1057517136, rs1057517425, rs1057516984, rs1057516254, rs531425980, rs1057516793, rs1057516306, rs1057516952, rs1057516513, rs1057517079, rs764318570, rs1057517017, rs867341758, rs745757264, rs1057517405, rs1057516994, rs1057517315, rs1057516529, rs1057517001, rs1057517058, rs1057517067, rs1057516598, rs753181427, rs1057517442, rs747513238, rs752848974, rs1057516259, rs1057516612, rs749560316, rs1057516468, rs1057517400, rs752851284, rs1057516329, rs1057516629, rs1057517145, rs1057517361, rs1057516349, rs772194378, rs1057516367, rs1057517227, rs1057516674, rs1057517008, rs1057516630, rs749323139, rs1057516858, rs80356486, rs1055945806, rs1057516251, rs1057517165, rs1057516503, rs1057517381, rs1057517320, rs376229714, rs1057516600, rs762260678, rs1057516290, rs1057516785, rs1057516520, rs757458607, rs1057516546, rs1057517286, rs1057516215, rs560575383, rs747610090, rs892129065, rs1057517267, rs1057516426, rs377544304, rs1057516826, rs1057517105, rs753269119, rs778418246, rs1057516928, rs1057516581, rs1057516327, rs1057516328, rs1057516277, rs1057516363, rs777275355, rs1057516924, rs1057517148, rs1057516704, rs1057516341, rs763359208, rs1057518106, rs780883601, rs775685508, rs751952198, rs148842275, rs766733439, rs1064795728, rs1064795749, rs1064796703, rs1064794288, rs375470378, rs1064796706, rs1064797157, rs764567774, rs145166656, rs767409395, rs150911354, rs757681143, rs200483245, rs771069887, rs114073621, rs1553690406, rs774465102, rs758504480, rs143670942, rs1422043936, rs373517016, rs1553188832, rs771853367, rs1553185403, rs12118058, rs1553193463, rs370247862, rs1555602832, rs1555560204, rs1555603264, rs61736895, rs763016962, rs1556016365, rs1555601828, rs991082382, rs1555599713, rs1555136390, rs754134578, rs752002666, rs1553183220, rs1307281520, rs1479740763, rs1555989523, rs1555600102, rs142917638, rs1553185302, rs1553684545, rs1555601234, rs373345919, rs1553183359, rs1556014969, rs760589837, rs776733170, rs1553185474, rs1553186489, rs757987101, rs140095668, rs1188310172, rs1555467052, rs1555467557, rs748363083, rs763027848, rs1555600730, rs1555598796, rs1555988479, rs1556000892, rs1556007472, rs1556002344, rs764591009, rs769172044, rs1555328280, rs1354714214, rs1553183148, rs930434905, rs751112302, rs878959417, rs775498547, rs1443902661, rs1553192718, rs1293077915, rs1553193529, rs1553181400, rs1215043175, rs1553185418, rs1553185883, rs1553183178, rs1553186577, rs1553188559, rs750492389, rs1553188849, rs1432024176, rs1289339080, rs767346840, rs1553190751, rs1553184620, rs755747010, rs1553193486, rs1553184657, rs1327892944, rs1553187237, rs1553185905, rs1553193530, rs1553186613, rs1553187957, rs773095419, rs1553189468, rs1185321132, rs770438130, rs1553190316, rs1555133248, rs1462767117, rs1555136752, rs1163710370, rs1555136208, rs1555136540, rs750857876, rs1555136459, rs187131358, rs1555559741, rs1411037881, rs1485038937, rs1555598687, rs1555598880, rs1555599171, rs1555599586, rs1555599637, rs1555598869, rs1555599644, rs1555599594, rs1555599619, rs1555600050, rs1555599960, rs766680292, rs1555600166, rs996798292, rs1555600575, rs770780848, rs1555601780, rs765362308, rs1209887739, rs1555603216, rs1428358278, rs776948121, rs1555601662, rs1555603131, rs192679574, rs1555559279, rs1189630738, rs1555559991, rs1555560140, rs1555560185, rs1555598460, rs1555598544, rs1555598824, rs1555600111, rs778068209, rs1555600846, rs747150965, rs753505203, rs914396317, rs1555602692, rs1344266804, rs1555558920, rs1457925404, rs1555598800, rs1207988953, rs1555599667, rs1555600061, rs1434761678, rs759518659, rs1555601802, rs1555602703, rs1555602860, rs1555603434, rs1555995635, rs1567825175, rs1567705064, rs1567838823, rs1559637815, rs1557794150, rs756175624, rs146195866, rs781511110, rs759657964, rs1563131309, rs746120293, rs746348793, rs770037766, rs1270523244, rs1567706564, rs1567260747, rs201056962, rs764539267, rs765718882, rs1568619900, rs1569298646, rs1569344469, rs1567828977, rs561646250, rs1569297379, rs1210626722, rs1569300538, rs1256371424, rs747947171, rs1565538121, rs1565536363, rs1569297427, rs1567830317, rs764750389, rs1555603219, rs1567829962, rs1430517061, rs1205507761, rs149244943, rs748262135, rs1556299510, rs780246932, rs752961445, rs1315020035, rs767095759, rs756205397, rs149096315, rs1242540921, rs371296953, rs1303617854, rs766536350, rs1414146587, rs1567835775, rs1567835781, rs1570433472, rs1570508240, rs763216519, rs1598585402, rs1598578030, rs1598581682, rs1592412131, rs1571232214, rs1571232404, rs1571243699, rs1570433686, rs1570438459, rs765367405, rs1206517501, rs1239498701, rs774926455, rs1480850606, rs777589783, rs768604948, rs1592410003, rs1592818641, rs760187622, rs539898848, rs755612674, rs1597988331, rs775826449, rs1232001857, rs200210219, rs1598575231, rs141533320, rs1598582021, rs764670084, rs1448515860, rs886043882, rs1601685358, rs1601689006, rs1601739229, rs1601781024, rs1601781031, rs539203557, rs1212333772, rs372079212, rs765425704, rs776545903, rs1597989985, rs1598592604, rs1597989983, rs1556257317, rs1475559733, rs1598577666, rs1598580364, rs1596687577, rs1372753669, rs1601714299, rs1601747985, rs1601776276, rs1601760689, rs1601763099, rs1571232325, rs1570445130, rs370202718, rs1570487381, rs1576183537, rs1592408302, rs1592409633, rs150483902, rs1596687555, rs762089284, rs1597990895, rs1597990906, rs1597991608, rs1597991733, rs1601687244, rs1601748216, rs1601776523, rs1571243862, rs1592409631, rs1601780766, rs2039275157, rs2039287628, rs1567702823, rs756632286, rs1597990921, rs1576137368, rs1322527832, rs1596047883, rs1650040391, rs780694207, rs758182700, rs1652018859, rs1652879873, rs1654912428, rs1703086906, rs781198373, rs1703800818, rs1490328834, rs1804721948, rs1311913891, rs2058363627, rs1005687078, rs2058388882, rs2058407169, rs2058421657, rs138893744, rs758943884, rs2056023296, rs1401928680, rs764401169, rs2056091436, rs915675670, rs2039038743, rs2039117815, rs2039190879, rs2039192386, rs2039213824, rs766398206, rs2039287852, rs2047467477, rs2047492649, rs2047492720, rs765360653, rs111911126, rs1219299972, rs2047834385, rs2039261208, rs1262967083, rs2047514376, rs2048391185, rs2058357329, rs1598580407, rs2039250790, rs755305465, rs766448695
Lafora disease	Lafora Body Disease, Late Onset, Lafora Disease, Lafora disease	rs28940575, rs28940576, rs587776542, rs121917876, rs104893950, rs137852917, rs137852915, rs587776553, rs137852916, rs587776554, rs104893955, rs769301934, rs796052427, rs796052424, rs750465793, rs863225286, rs757954108, rs781291421, rs187930476, rs1131691331, rs1194084403, rs1157872508, rs1403101337, rs78324544, rs1776788274	15930137, 21505799, 18029386, 15781812, 16134145, 18263761, 16021330, 25667860, 16311711, 12958597, 22815132, 12960212, 27604308, 22047982, 22669944, 16190947, 19744044, 18311786, 18256682, 16950819, 20738377, 17952067, 16529633
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	30201983
Myoclonic epilepsy	Familial Progressive Myoclonic Epilepsy, Myoclonic Epilepsies, Progressive, EPILEPSY, PROGRESSIVE MYOCLONIC 2B	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	25401298
Seizure	Complex partial seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Absence seizure	Atypical absence seizure			ClinVar
Mental depression	Depressive disorder			ClinVar
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Death	Associate	16529633
Epilepsies Myoclonic	Associate	35569391
Headache Disorders	Associate	16529633
Lafora Disease	Associate	12960212, 15781812, 15930137, 16190947, 16529633, 16950819, 17452581, 19322595, 19744044, 20738377, 21728993, 21887368, 22223637, 22961547, 25270369, 26546463, 29645350, 30041081, 31758957, 33773408, 35184210, 35569391, 36192771, 40442642
Lung Neoplasms	Associate	36142605
Neurodegenerative Diseases	Associate	15930137