CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2)

Gene

• Entrez ID: 9254
• Gene name: Calcium voltage-gated channel auxiliary subunit alpha2delta 2
• Gene symbol: CACNA2D2
• Synonyms (NCBI Gene): CACNA2D, CASVDD
• Disease Acronyms (UniProt): CASVDD
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777165	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518420	C>T	Likely-pathogenic	Splice acceptor variant
rs1060503108	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1211603072	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1485894376	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553729881	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553759256	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559884460	GAGAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559887808	G>A	Pathogenic	Stop gained, coding sequence variant
rs1575601202	A>C,G	Likely-pathogenic	Splice donor variant
rs1575603683	->T	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT755800	hsa-miR-423-5p	Luciferase reporter assay, qRT-PCR, Immunofluorescence	37047559
MIRT857796	hsa-miR-1208	CLIP-seq
MIRT857797	hsa-miR-1225-3p	CLIP-seq
MIRT857798	hsa-miR-1233	CLIP-seq
MIRT857799	hsa-miR-1321	CLIP-seq
MIRT857800	hsa-miR-134	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT857802	hsa-miR-224	CLIP-seq
MIRT857803	hsa-miR-3118	CLIP-seq
MIRT857804	hsa-miR-3126-5p	CLIP-seq
MIRT857805	hsa-miR-3145-3p	CLIP-seq
MIRT857806	hsa-miR-3164	CLIP-seq
MIRT857807	hsa-miR-3189-5p	CLIP-seq
MIRT857808	hsa-miR-3200-5p	CLIP-seq
MIRT857809	hsa-miR-34c-3p	CLIP-seq
MIRT857810	hsa-miR-377	CLIP-seq
MIRT857811	hsa-miR-4291	CLIP-seq
MIRT857812	hsa-miR-4303	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT857814	hsa-miR-4323	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT857816	hsa-miR-4688	CLIP-seq
MIRT857817	hsa-miR-4728-5p	CLIP-seq
MIRT857818	hsa-miR-4739	CLIP-seq
MIRT857819	hsa-miR-4756-5p	CLIP-seq
MIRT857820	hsa-miR-4768-3p	CLIP-seq
MIRT857821	hsa-miR-545	CLIP-seq
MIRT857822	hsa-miR-555	CLIP-seq
MIRT857823	hsa-miR-624	CLIP-seq
MIRT857824	hsa-miR-1262	CLIP-seq
MIRT857825	hsa-miR-1273f	CLIP-seq
MIRT857799	hsa-miR-1321	CLIP-seq
MIRT857826	hsa-miR-143	CLIP-seq
MIRT857804	hsa-miR-3126-5p	CLIP-seq
MIRT857827	hsa-miR-3689d	CLIP-seq
MIRT857811	hsa-miR-4291	CLIP-seq
MIRT857828	hsa-miR-4701-3p	CLIP-seq
MIRT857829	hsa-miR-4708-5p	CLIP-seq
MIRT857817	hsa-miR-4728-5p	CLIP-seq
MIRT857818	hsa-miR-4739	CLIP-seq
MIRT857819	hsa-miR-4756-5p	CLIP-seq
MIRT857830	hsa-miR-4770	CLIP-seq
MIRT857821	hsa-miR-545	CLIP-seq
MIRT857831	hsa-miR-576-3p	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1546045	hsa-miR-3614-5p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1546046	hsa-miR-432	CLIP-seq
MIRT1546047	hsa-miR-4443	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT1546049	hsa-miR-765	CLIP-seq
MIRT1546050	hsa-miR-890	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT1954731	hsa-miR-3117-5p	CLIP-seq
MIRT1954732	hsa-miR-3174	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1954733	hsa-miR-3663-3p	CLIP-seq
MIRT1954734	hsa-miR-409-5p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1954735	hsa-miR-4254	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT1954736	hsa-miR-4450	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT1954737	hsa-miR-4704-5p	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT1954738	hsa-miR-522	CLIP-seq
MIRT1954739	hsa-miR-539	CLIP-seq
MIRT1954740	hsa-miR-619	CLIP-seq
MIRT1954741	hsa-miR-921	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT2192308	hsa-miR-1207-5p	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT2192309	hsa-miR-3151	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1546045	hsa-miR-3614-5p	CLIP-seq
MIRT1954733	hsa-miR-3663-3p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1954735	hsa-miR-4254	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT1546046	hsa-miR-432	CLIP-seq
MIRT1546047	hsa-miR-4443	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT2192310	hsa-miR-4723-5p	CLIP-seq
MIRT2192311	hsa-miR-4763-3p	CLIP-seq
MIRT1954740	hsa-miR-619	CLIP-seq
MIRT1546049	hsa-miR-765	CLIP-seq
MIRT1546050	hsa-miR-890	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA	21873635
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0061337	Process	Cardiac conduction	TAS
GO:0070588	Process	Calcium ion transmembrane transport	IEA

Other IDs

• MIM: 607082
• HGNC: 1400
• e!Ensembl: ENSG00000007402

Protein

• UniProt ID: Q9NY47
• Protein name: Voltage-dependent calcium channel subunit alpha-2/delta-2 (Voltage-gated calcium channel subunit alpha-2/delta-2) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-2; Voltage-dependent calcium channel subunit delta-2]
• Protein function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B),
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08399	VWA_N	141 → 265	VWA N-terminal	Family
  PF00092	VWA	291 → 464	von Willebrand factor type A domain	Domain
  PF08473	VGCC_alpha2	669 → 1111	Neuronal voltage-dependent calcium channel alpha 2acd	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also expressed in kidney
• Sequence:

  MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGAS
  AYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVA
  GDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVER
  GSKASTLRLDFIEDPNFKNKVNYSYAAVQIPTDIYKGSTVILNELNWTEALENVFMENRR
  QDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSG
  SVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAV
  QGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT
  VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEA
  KQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVMGIDVALNDIKRLTPN
  YTLGANGYVFAIDLNGYVLLHPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGN
  KGHKQIRTLVKSLDERYIDEVTRNYTWVPIRSTNYSLGLVLPPYSTFYLQANLSDQILQV
  KLPISKLKDFEFLLPSSFESEGHVFIAPREYCKDLNASDNNTEFLKNFIELMEKVTPDSK
  QCNNFLLHNLILDTGITQQLVERVWRDQDLNTYSLLAVFAATDGGITRVFPNKAAEDWTE
  NPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVSTAVELSLGRRTLRPA
  VVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLV
  LSNQNHQWDQVGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVF
  VPTVADFLNLAWWTSAAAWSLFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQY
  YFGSVNASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEAGRLLQKETHSDGP
  EQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSLGVLVSLQLLLLLGLPPRPQP
  QVLVHASRRL

• Sequence length: 1150

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
Regulation of insulin secretion
Phase 0 - rapid depolarisation
Phase 2 - plateau phase

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Benign hereditary chorea	Benign Hereditary Chorea	rs28936671, rs28936672, rs387906404, rs137852693, rs137852694, rs1555349146, rs1555349214, rs1594407006	14660671
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	15331424
Epilepsy	Epilepsy, Epilepsy, Absence, Atypical, 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	15331424, 14660671
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Absence seizure	Absence Seizure Disorder		14660671	ClinVar
Huntington disease	Chronic progressive chorea		14660671	ClinVar
Cerebellar atrophy	cerebellar atrophy with seizures and variable developmental delay			GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Schizophrenia	Schizophrenia			GWAS
Bipolar Disorder	Bipolar Disorder			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	31402629
Brain Diseases	Associate	24358150, 29997391, 31402629
Breast Neoplasms	Associate	22139571
Breast Neoplasms	Inhibit	33742056
Carcinoma Non Small Cell Lung	Associate	23237220
Cerebellar Diseases	Associate	31402629
Endometrial Neoplasms	Associate	32074080, 37352078
Epilepsy Absence	Associate	20561025
Epileptic Encephalopathy Early Infantile 3	Associate	31402629
Frontotemporal Lobar Degeneration	Associate	40158290
Heredodegenerative Disorders Nervous System	Associate	31402629
Homozygous Familial Hypercholesterolemia	Associate	34052320
Hypertension	Associate	37047559
Lung Neoplasms	Associate	23237220
Maple Syrup Urine Disease	Associate	31235756
Mitochondrial Diseases	Associate	28420414
Neoplasms	Inhibit	22139571
Neoplasms	Associate	25787250, 28420414
Nerve Degeneration	Associate	40158290
Neurodegenerative Diseases	Associate	40158290
Seizures	Associate	31402629
SHORT syndrome	Associate	29016797
Spinocerebellar Degenerations	Associate	31402629
Symphalangism C. S. Lewis Type	Associate	37047559