CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)

Gene

• Entrez ID: 785
• Gene name: Calcium voltage-gated channel auxiliary subunit beta 4
• Gene symbol: CACNB4
• Synonyms (NCBI Gene): CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
• Disease Acronyms (UniProt): EA5, EIG9, EJM6
• Chromosome: 2
• Chromosome location: 2q23.3
• Summary: This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805031	C>A	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, risk-factor	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs1805032	G>A	Risk-factor	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs200092211	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs200662010	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs542973906	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, missense variant
rs558998873	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs754380009	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs762394421	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs794727118	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs1057518688	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030091	hsa-miR-26b-5p	Sequencing	20371350
MIRT739410	hsa-miR-4802-3p	HITS-CLIP	33718276
MIRT857912	hsa-miR-103a	CLIP-seq
MIRT857913	hsa-miR-107	CLIP-seq
MIRT857914	hsa-miR-1183	CLIP-seq
MIRT857915	hsa-miR-1206	CLIP-seq
MIRT857916	hsa-miR-122	CLIP-seq
MIRT857917	hsa-miR-1265	CLIP-seq
MIRT857918	hsa-miR-134	CLIP-seq
MIRT857919	hsa-miR-190	CLIP-seq
MIRT857920	hsa-miR-190b	CLIP-seq
MIRT857921	hsa-miR-2053	CLIP-seq
MIRT857922	hsa-miR-2113	CLIP-seq
MIRT857923	hsa-miR-3065-5p	CLIP-seq
MIRT857924	hsa-miR-3118	CLIP-seq
MIRT857925	hsa-miR-3129-3p	CLIP-seq
MIRT857926	hsa-miR-3136-5p	CLIP-seq
MIRT857927	hsa-miR-3164	CLIP-seq
MIRT857928	hsa-miR-3171	CLIP-seq
MIRT857929	hsa-miR-3190	CLIP-seq
MIRT857930	hsa-miR-3202	CLIP-seq
MIRT857931	hsa-miR-338-5p	CLIP-seq
MIRT857932	hsa-miR-3605-5p	CLIP-seq
MIRT857933	hsa-miR-361-5p	CLIP-seq
MIRT857934	hsa-miR-3653	CLIP-seq
MIRT857935	hsa-miR-3658	CLIP-seq
MIRT857936	hsa-miR-3659	CLIP-seq
MIRT857937	hsa-miR-3688-3p	CLIP-seq
MIRT857938	hsa-miR-3689a-5p	CLIP-seq
MIRT857939	hsa-miR-3689b	CLIP-seq
MIRT857940	hsa-miR-3689e	CLIP-seq
MIRT857941	hsa-miR-3689f	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857944	hsa-miR-409-3p	CLIP-seq
MIRT857945	hsa-miR-4255	CLIP-seq
MIRT857946	hsa-miR-4257	CLIP-seq
MIRT857947	hsa-miR-4307	CLIP-seq
MIRT857948	hsa-miR-4426	CLIP-seq
MIRT857949	hsa-miR-4439	CLIP-seq
MIRT857950	hsa-miR-4513	CLIP-seq
MIRT857951	hsa-miR-4533	CLIP-seq
MIRT857952	hsa-miR-4647	CLIP-seq
MIRT857953	hsa-miR-4662b	CLIP-seq
MIRT857954	hsa-miR-4677-3p	CLIP-seq
MIRT857955	hsa-miR-4678	CLIP-seq
MIRT857956	hsa-miR-4679	CLIP-seq
MIRT857957	hsa-miR-4698	CLIP-seq
MIRT857958	hsa-miR-4709-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT857960	hsa-miR-4729	CLIP-seq
MIRT857961	hsa-miR-4775	CLIP-seq
MIRT857962	hsa-miR-485-5p	CLIP-seq
MIRT857963	hsa-miR-505	CLIP-seq
MIRT857964	hsa-miR-539	CLIP-seq
MIRT857965	hsa-miR-548ac	CLIP-seq
MIRT857966	hsa-miR-548ae	CLIP-seq
MIRT857967	hsa-miR-548aj	CLIP-seq
MIRT857968	hsa-miR-548am	CLIP-seq
MIRT857969	hsa-miR-548d-3p	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq
MIRT857971	hsa-miR-548x	CLIP-seq
MIRT857972	hsa-miR-548z	CLIP-seq
MIRT857973	hsa-miR-569	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT857975	hsa-miR-590-3p	CLIP-seq
MIRT857976	hsa-miR-628-5p	CLIP-seq
MIRT857977	hsa-miR-758	CLIP-seq
MIRT857978	hsa-miR-129-3p	CLIP-seq
MIRT857979	hsa-miR-218	CLIP-seq
MIRT857980	hsa-miR-3159	CLIP-seq
MIRT857981	hsa-miR-3200-5p	CLIP-seq
MIRT857930	hsa-miR-3202	CLIP-seq
MIRT857982	hsa-miR-361-3p	CLIP-seq
MIRT857983	hsa-miR-3617	CLIP-seq
MIRT857984	hsa-miR-3679-3p	CLIP-seq
MIRT857937	hsa-miR-3688-3p	CLIP-seq
MIRT857985	hsa-miR-4279	CLIP-seq
MIRT739773	hsa-miR-433	CLIP-seq
MIRT857986	hsa-miR-4446-5p	CLIP-seq
MIRT857987	hsa-miR-4502	CLIP-seq
MIRT857951	hsa-miR-4533	CLIP-seq
MIRT739772	hsa-miR-4661-5p	CLIP-seq
MIRT857988	hsa-miR-495	CLIP-seq
MIRT857965	hsa-miR-548ac	CLIP-seq
MIRT857966	hsa-miR-548ae	CLIP-seq
MIRT857967	hsa-miR-548aj	CLIP-seq
MIRT857968	hsa-miR-548am	CLIP-seq
MIRT857969	hsa-miR-548d-3p	CLIP-seq
MIRT857989	hsa-miR-548u	CLIP-seq
MIRT857971	hsa-miR-548x	CLIP-seq
MIRT857972	hsa-miR-548z	CLIP-seq
MIRT857990	hsa-miR-599	CLIP-seq
MIRT857991	hsa-miR-636	CLIP-seq
MIRT857992	hsa-miR-641	CLIP-seq
MIRT857993	hsa-miR-651	CLIP-seq
MIRT857994	hsa-miR-7	CLIP-seq
MIRT857995	hsa-miR-938	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT1954820	hsa-miR-124	CLIP-seq
MIRT1954821	hsa-miR-3714	CLIP-seq
MIRT1954822	hsa-miR-3910	CLIP-seq
MIRT1954823	hsa-miR-4660	CLIP-seq
MIRT1954824	hsa-miR-488	CLIP-seq
MIRT1954825	hsa-miR-506	CLIP-seq
MIRT1954826	hsa-miR-515-5p	CLIP-seq
MIRT857994	hsa-miR-7	CLIP-seq
MIRT2192354	hsa-miR-466	CLIP-seq
MIRT2192355	hsa-miR-587	CLIP-seq
MIRT2192356	hsa-miR-129-5p	CLIP-seq
MIRT857982	hsa-miR-361-3p	CLIP-seq
MIRT2192357	hsa-miR-3671	CLIP-seq
MIRT857984	hsa-miR-3679-3p	CLIP-seq
MIRT857986	hsa-miR-4446-5p	CLIP-seq
MIRT2192358	hsa-miR-607	CLIP-seq
MIRT857915	hsa-miR-1206	CLIP-seq
MIRT2495749	hsa-miR-144	CLIP-seq
MIRT2495750	hsa-miR-186	CLIP-seq
MIRT857919	hsa-miR-190	CLIP-seq
MIRT857920	hsa-miR-190b	CLIP-seq
MIRT2495751	hsa-miR-3133	CLIP-seq
MIRT2495752	hsa-miR-410	CLIP-seq
MIRT2495753	hsa-miR-4645-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT857960	hsa-miR-4729	CLIP-seq
MIRT2495754	hsa-miR-544	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT2495749	hsa-miR-144	CLIP-seq
MIRT2495752	hsa-miR-410	CLIP-seq
MIRT2495753	hsa-miR-4645-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT2495754	hsa-miR-544	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	16525042
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA	21873635
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11880487, 16525042
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007528	Process	Neuromuscular junction development	IBA	21873635
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	11880487
GO:0009898	Component	Cytoplasmic side of plasma membrane	TAS	16385006
GO:0045202	Component	Synapse	IEA
GO:0051899	Process	Membrane depolarization	TAS
GO:0061337	Process	Cardiac conduction	TAS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:1901385	Process	Regulation of voltage-gated calcium channel activity	IBA	21873635
GO:1901385	Process	Regulation of voltage-gated calcium channel activity	IMP	11880487

Other IDs

• MIM: 601949
• HGNC: 1404
• e!Ensembl: ENSG00000182389

Protein

• UniProt ID: O00305
• Protein name: Voltage-dependent L-type calcium channel subunit beta-4 (CAB4) (Calcium channel voltage-dependent subunit beta 4)
• Protein function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and c
• PDB: 2D46
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12052	VGCC_beta4Aa_N	50 → 91	Voltage gated calcium channel subunit beta domain 4Aa N terminal	Domain
  PF00625	Guanylate_kin	218 → 398	Guanylate kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in the cerebellum and kidney.
• Sequence:

  MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPS
  DSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISF
  DAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNS
  SSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQK
  ALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIF
  ELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQ
  LVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGS
  TALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQH
  SRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL

• Sequence length: 520

Pathways

KEGG:

MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Presynaptic depolarization and calcium channel opening
Phase 0 - rapid depolarisation
Phase 2 - plateau phase

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	Cardiomyopathy, Familial Idiopathic	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178	29495422
Epilepsy	Epilepsy, Epilepsy, Generalized, Epilepsy, Atonic, Epilepsy, Tonic, Idiopathic generalized epilepsy, Symptomatic Generalized Epilepsy, Epilepsy, Akinetic, Impulsive Petit Mal Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	9442082, 10762541, 27959697, 24875574, 18755274, 9039265
Episodic ataxia	Episodic Ataxia, EPISODIC ATAXIA, TYPE 5, Episodic ataxia type 5	rs121908212, rs587776692, rs587776693, rs121908216, rs121908215, rs121908233, rs121908226, rs587776694, rs587776695, rs121908225, rs121909323, rs121909324, rs121908227, rs121909326, rs121908236, rs137852619, rs137852620, rs104894352, rs104894348, rs104894349, rs104894356, rs104894357, rs104894353, rs104894354, rs104894355, rs267607195, rs104894358, rs28933383, rs113994120, rs387906683, rs387906686, rs121908240, rs121908247, rs121908243, rs121908228, rs786200962, rs794727411, rs1553463427, rs796053166, rs121917753, rs1064794808, rs1555755977, rs1064794262, rs1064794263, rs1085308020, rs1553579488, rs746790849, rs1555762869, rs1555085761, rs1555085798, rs1555740805, rs1553578503, rs1555738369, rs1555751762, rs1315533129, rs1568473171, rs1568473233, rs1568493323, rs774224202, rs1568514371, rs1600272344, rs1600139781, rs1599294284, rs1600088360, rs374686479, rs1574571769, rs1600198481, rs1600242882, rs1568514116, rs1599292631, rs1600271575, rs1600180659, rs1702008435	10762541, 18446307
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Myoclonic epilepsy	Juvenile Myoclonic Epilepsy, Juvenile Myoclonic Epilepsy of Janz, Juvenile myoclonic epilepsy, Myoclonic Epilepsy, Adolescent, Myoclonic Epilepsy, Juvenile, 1	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	23756480, 10762541
Nystagmus	Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Astrocytoma	Astrocytoma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alopecia	Associate	24025145
Cerebellar Diseases	Associate	35256372
Drug Resistant Epilepsy	Associate	28388656
Epilepsy	Associate	31056551, 35256372
Epilepsy Absence	Associate	20561025
Epilepsy Familial Mesial Temporal Lobe	Associate	34086756
Epilepsy Temporal Lobe	Associate	35256372
Episodic Ataxia	Associate	29062094
Schizophrenia	Associate	28359200