CACNA1H (calcium voltage-gated channel subunit alpha1 H)

Gene

• Entrez ID: 8912
• Gene name: Calcium voltage-gated channel subunit alpha1 H
• Gene symbol: CACNA1H
• Synonyms (NCBI Gene): CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
• Disease Acronyms (UniProt): ECA6, EIG6, HALD4
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3751664	C>A,T	Benign, risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs57315342	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs58173258	G>A	Risk-factor, benign	Non coding transcript variant, missense variant, coding sequence variant
rs60040113	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs60734921	C>T	Risk-factor, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs119454947	C>A,G,T	Risk-factor	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs119454948	G>A,T	Risk-factor	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs119454949	G>A	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs201651793	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201911360	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs267606697	G>A	Likely-benign, risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs368976749	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs370039255	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs373830807	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs377112179	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs749735503	G>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs767983680	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs771718484	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs775271588	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs786205050	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518033	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064793076	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant
rs1437449624	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555510028	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT857734	hsa-miR-3140-5p	CLIP-seq
MIRT857735	hsa-miR-4680-3p	CLIP-seq
MIRT857736	hsa-miR-490-3p	CLIP-seq
MIRT857737	hsa-miR-649	CLIP-seq
MIRT1954703	hsa-miR-1293	CLIP-seq
MIRT1954704	hsa-miR-191	CLIP-seq
MIRT1954705	hsa-miR-4483	CLIP-seq
MIRT1954706	hsa-miR-4493	CLIP-seq
MIRT1954707	hsa-miR-4646-5p	CLIP-seq
MIRT1954708	hsa-miR-4747-3p	CLIP-seq
MIRT1954709	hsa-miR-4747-5p	CLIP-seq
MIRT1954703	hsa-miR-1293	CLIP-seq
MIRT2192272	hsa-miR-3179	CLIP-seq
MIRT2192273	hsa-miR-3202	CLIP-seq
MIRT2192274	hsa-miR-3652	CLIP-seq
MIRT2192275	hsa-miR-4430	CLIP-seq
MIRT1954705	hsa-miR-4483	CLIP-seq
MIRT2192276	hsa-miR-4505	CLIP-seq
MIRT2192277	hsa-miR-4533	CLIP-seq
MIRT2192278	hsa-miR-4638-5p	CLIP-seq
MIRT2192279	hsa-miR-4707-3p	CLIP-seq
MIRT2192280	hsa-miR-4793-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	22431737
REST	Unknown	22431737

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA	21873635
GO:0005244	Function	Voltage-gated ion channel activity	IDA	27149520
GO:0005248	Function	Voltage-gated sodium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	27149520
GO:0005887	Component	Integral component of plasma membrane	IDA	27149520
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006936	Process	Muscle contraction	TAS	9670923
GO:0007517	Process	Muscle organ development	NAS	9670923
GO:0007520	Process	Myoblast fusion	TAS	10861024
GO:0008016	Process	Regulation of heart contraction	TAS	9670923
GO:0008332	Function	Low voltage-gated calcium channel activity	IBA	21873635
GO:0008332	Function	Low voltage-gated calcium channel activity	IDA	21084288
GO:0016021	Component	Integral component of membrane	IDA	21084288
GO:0019228	Process	Neuronal action potential	IBA	21873635
GO:0032342	Process	Aldosterone biosynthetic process	IMP	19342457
GO:0032870	Process	Cellular response to hormone stimulus	IEP	19342457
GO:0034651	Process	Cortisol biosynthetic process	IMP	19342457
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0035865	Process	Cellular response to potassium ion	IEP	19342457
GO:0042391	Process	Regulation of membrane potential	IDA	21084288
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0070509	Process	Calcium ion import	IBA	21873635
GO:0070509	Process	Calcium ion import	IDA	21084288
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0086010	Process	Membrane depolarization during action potential	IBA	21873635
GO:0097110	Function	Scaffold protein binding	IPI	21084288
GO:0098662	Process	Inorganic cation transmembrane transport	IDA	27149520
GO:2000344	Process	Positive regulation of acrosome reaction	IMP	20394732

Other IDs

• MIM: 607904
• HGNC: 1395
• e!Ensembl: ENSG00000196557

Protein

• UniProt ID: O95180
• Protein name: Voltage-dependent T-type calcium channel subunit alpha-1H (Low-voltage-activated calcium channel alpha1 3.2 subunit) (Voltage-gated calcium channel subunit alpha Cav3.2)
• Protein function: Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a vo
• PDB: 9AYG, 9AYH, 9AYJ, 9AYK, 9AYL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	99 → 430	Ion transport protein	Family
  PF00520	Ion_trans	792 → 1025	Ion transport protein	Family
  PF00520	Ion_trans	1293 → 1566	Ion transport protein	Family
  PF00520	Ion_trans	1616 → 1871	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the adrenal glomerulosa (at protein level) (PubMed:25907736, PubMed:27729216). In nonneuronal tissues, the highest expression levels are found in the kidney, liver, and heart. In the brain, most abundant in the amygdala, c
• Sequence:

  MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGA
  ELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMF
  RPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVV
  AGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFV
  FFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQ
  KCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAIN
  FDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIAT
  QFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYA
  RWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPG
  PEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAA
  SLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKI
  PHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESG
  DSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWV
  TFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEM
  LLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPA
  LRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSL
  LWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQA
  EGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCT
  AATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSS
  RRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLD
  PRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEP
  YKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDP
  GSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIV
  VAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAF
  FIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVL
  SSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHK
  CRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLD
  LFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDR
  WNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLD
  TVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLT
  LFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLM
  KHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVS
  VSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQ
  IPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEP
  GEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEE
  VSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAEL
  GSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRT
  PSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDP
  FLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPS
  ATPAPGGGADDPV

• Sequence length: 2353

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
Circadian entrainment
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
GnRH secretion
Cushing syndrome

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	16754686
Beta thalassemia	beta Thalassemia	rs33930165, rs33946267, rs33950507, rs34378160, rs33960103, rs35424040, rs33933298, rs33972047, rs334, rs33969677, rs33940204, rs35256489, rs33986703, rs11549407, rs63750783, rs33974936, rs33922842, rs33995148, rs33982568, rs34502690, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs281864901, rs34889882, rs34856846, rs267607297, rs41443947, rs35383398, rs63750099, rs34533941, rs36107977, rs63750532, rs35532010, rs1554917888, rs33941849, rs33971440, rs33945777, rs1554918032, rs193922563, rs63751076, rs33943001, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs34451549, rs33951465, rs33944208, rs63751208, rs34883338, rs33941377, rs33994806, rs33981098, rs33980857, rs34598529, rs33931746, rs33985472, rs63750954, rs33925391, rs35894115, rs63751128, rs33913712, rs35949130, rs63750475, rs33952266, rs36015961, rs34999973, rs34750035, rs33930702, rs35699671, rs267607291, rs63751218, rs63750513, rs35477349, rs33978907, rs41464951, rs63750067, rs33914668, rs34305195, rs193922552, rs193922553, rs34282684, rs193922555, rs35699606, rs34937014, rs35328027, rs35703285, rs33956879, rs34527846, rs34716011, rs63749960, rs63750128, rs1847516043, rs63751269, rs34809925, rs34135787, rs34704828, rs35225141, rs63750283, rs35619054, rs34563000, rs33991059, rs1554917561, rs34218908, rs1554918165, rs1554917947, rs35456885, rs35684407, rs1564875707, rs1564875331, rs1564874901, rs63750205, rs281865475, rs35395625, rs1564874813, rs63750223, rs281864518, rs35755331, rs281864532, rs1847518799, rs34171453, rs1847520793, rs281864497, rs1847523960, rs33953406, rs281864531, rs33910209, rs34363638, rs281864544, rs281864528, rs63751306, rs281864527, rs33930977, rs63750556, rs1847551520, rs1847552816, rs34466953, rs1847553344, rs34477959, rs1847553498, rs1847553585, rs1847553982, rs34831847, rs1847554171, rs35371965, rs1847555115, rs63750504, rs281864906, rs281864520, rs1847557333, rs1847557422, rs1847557540, rs34165323, rs1847558511, rs267607293, rs33969400, rs1847559573, rs1847560327, rs1847560717, rs35171933, rs34960334, rs35165357, rs1847561467, rs1847561978, rs1847562189, rs1847562491, rs1847563072, rs35133315, rs1554917970, rs33979901, rs36029927, rs63749957, rs1847565768, rs35857380, rs63749977, rs1135071, rs1847579861, rs267607295, rs35619688, rs281864899, rs1847582194, rs281864898, rs1847582308, rs33959855, rs1847584946, rs1847585652, rs1847585864, rs1847585812, rs1554918214, rs1847586938, rs1847587051, rs34548294, rs1847587286, rs1847587350, rs1847587392, rs1847587799, rs1847587930, rs34948328, rs281864519, rs1847588699, rs1847588915, rs1847589398, rs63750400, rs281864525, rs1847591425, rs1847592245, rs1847592435, rs63750692, rs1847534434, rs1847537515, rs35099082, rs63750774, rs1847554565, rs35348864	31542421
Epilepsy	Epilepsy, Generalized, Epilepsy, Absence, Atypical, EPILEPSY, CHILDHOOD ABSENCE, 1, Epilepsy, Minor	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	10648900, 17696120, 29468672, 19144837, 9930755, 15852375, 12891677
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Hemoglobinopathy	Hemoglobin F Disease	rs35693898, rs34160180, rs33916412, rs35424040, rs33933298, rs33966761, rs35890959, rs35002698, rs33969677, rs33974936, rs33922842, rs35662066, rs34856846, rs35383398, rs63750532, rs35532010, rs63751076, rs33944208, rs33925391, rs63751128, rs33924775, rs35485099, rs36008922, rs33927093, rs33950507, rs63750128, rs34704828, rs63750513, rs34563000, rs281864581, rs1564874901, rs33949869, rs35395625, rs35133315, rs33979901, rs1847589398	31542421
Hyperaldosteronism	HYPERALDOSTERONISM, FAMILIAL, TYPE IV	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595	25907736, 27729216
Hypertension	Hypertensive disease	rs13306026
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
Seizure	Tonic - clonic 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	Absence Seizure Disorder			ClinVar
Mental depression	Depressive disorder			ClinVar
Thalassemia	Thalassemia Minor, Thalassemia Intermedia		31542421	ClinVar
Pancreatic cancer	Pancreatic cancer	Genome-Wide CRISPR Screening Identifies DCK and CCNL1 as Genes That Contribute to Gemcitabine Resistance in Pancreatic Cancer		GWAS, CBGDA
Alzheimer disease	Alzheimer disease			GWAS
Diabetes	Diabetes			GWAS
Urticaria	Urticaria			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenoma	Associate	31983310
Amyotrophic Lateral Sclerosis	Associate	27331657
Arrhythmias Cardiac	Associate	15888660
Arthrogryposis	Associate	31070086
Autism Spectrum Disorder	Associate	16754686, 35668055
Autistic Disorder	Associate	33863995, 34368859
Breast Neoplasms	Associate	16475676, 33597614, 34600547, 40644891
Carcinoma Squamous Cell	Associate	27602771
Carotid Stenosis	Associate	21309755
Chorea	Associate	33478561
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	15888660
Conversion Disorder	Associate	34371182
Dermatitis Exfoliative	Associate	34098317
Developmental Disabilities	Associate	27729216
Diabetes Mellitus Type 1	Associate	30543678
Diabetes Mellitus Type 2	Associate	19005641, 36347081
Diabetic Neuropathies	Associate	31070086
Drug Resistant Epilepsy	Associate	34979672
Dystonia	Associate	33478561
Dystonic Disorders	Associate	33478561, 34544471
Epilepsy	Associate	31651342, 33863995, 34098317, 37735453
Epilepsy Absence	Associate	15888660, 16504478, 28165634
Epilepsy Generalized	Associate	29924869, 31651342
Epilepsy Idiopathic Generalized	Associate	36842888
Epileptic Encephalopathy Early Infantile 3	Associate	34399820
Epileptic Syndromes	Associate	34098317
Familial Hyperaldosteronism	Associate	27729216
Familial Primary Pulmonary Hypertension	Associate	28655554
Fractures Spontaneous	Associate	31126930
Glucocorticoid Remediable Aldosteronism	Associate	31126930
Hearing Loss	Associate	37735453
Hearing Loss Sensorineural	Associate	37735453
Hereditary alpha tryptasemia syndrome	Associate	28933792
Hyperaldosteronism	Associate	27729216, 31983310, 35757409, 40302475
Hyperglycemia	Stimulate	28081948
Hyperplasia	Associate	40302475
Hypertension	Associate	19609347, 25907736
Infertility Male	Associate	34604380
Language Development Disorders	Associate	34979672
Medulloblastoma	Stimulate	35243582
Migraine with Aura	Associate	36786913
Mononeuropathies	Associate	27729216
Muscular Atrophy Spinal	Associate	31070086
Myoclonic Epilepsy Juvenile	Associate	36842888
Neoplasms	Associate	27602771, 36790286
Neurologic Manifestations	Associate	33863995
Peripheral Nervous System Diseases	Associate	29581247
Prostatic Neoplasms	Associate	28081948
Schizophrenia	Associate	26462458, 29032150, 33863995
Seizures	Associate	28165634, 31651342
Seizures Febrile	Associate	34979672
Sudden Unexpected Death in Epilepsy	Associate	34816733
Syndrome	Associate	26633546, 29924869
Trigeminal Neuralgia	Associate	36397158