CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)

Gene

• Entrez ID: 781
• Gene name: Calcium voltage-gated channel auxiliary subunit alpha2delta 1
• Gene symbol: CACNA2D1
• Synonyms (NCBI Gene): CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3
• Chromosome: 7
• Chromosome location: 7q21.11
• Summary: The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarizat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs191213592	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1554338713	ATTGTCTCTTCTAGTT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001474	hsa-miR-16-5p	pSILAC	18668040
MIRT023627	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT001474	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT717867	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT717866	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT713924	hsa-miR-4731-3p	HITS-CLIP	19536157
MIRT713923	hsa-miR-4801	HITS-CLIP	19536157
MIRT713922	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT713921	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT713920	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT713919	hsa-miR-4642	HITS-CLIP	19536157
MIRT717867	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT717866	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT713924	hsa-miR-4731-3p	HITS-CLIP	19536157
MIRT713923	hsa-miR-4801	HITS-CLIP	19536157
MIRT713922	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT713921	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT713920	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT713919	hsa-miR-4642	HITS-CLIP	19536157
MIRT1954730	hsa-miR-409-3p	CLIP-seq
MIRT2192293	hsa-miR-1182	CLIP-seq
MIRT2192294	hsa-miR-1207-5p	CLIP-seq
MIRT2192295	hsa-miR-1271	CLIP-seq
MIRT2192296	hsa-miR-182	CLIP-seq
MIRT2192297	hsa-miR-2052	CLIP-seq
MIRT2192298	hsa-miR-3620	CLIP-seq
MIRT2192299	hsa-miR-4307	CLIP-seq
MIRT2192300	hsa-miR-4653-3p	CLIP-seq
MIRT2192301	hsa-miR-4676-5p	CLIP-seq
MIRT2192302	hsa-miR-4732-3p	CLIP-seq
MIRT2192303	hsa-miR-4736	CLIP-seq
MIRT2192304	hsa-miR-4763-3p	CLIP-seq
MIRT2192305	hsa-miR-516b	CLIP-seq
MIRT2192306	hsa-miR-575	CLIP-seq
MIRT2192307	hsa-miR-96	CLIP-seq
MIRT2192298	hsa-miR-3620	CLIP-seq
MIRT2436035	hsa-miR-4266	CLIP-seq
MIRT2436036	hsa-miR-4294	CLIP-seq
MIRT2192301	hsa-miR-4676-5p	CLIP-seq
MIRT2192302	hsa-miR-4732-3p	CLIP-seq
MIRT2192306	hsa-miR-575	CLIP-seq
MIRT2495656	hsa-miR-3591-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	11160515, 17224476
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	1309651
GO:0005245	Function	Voltage-gated calcium channel activity	IGI	21883149
GO:0005262	Function	Calcium channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA	35293990
GO:0005886	Component	Plasma membrane	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11160515, 17224476
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	1309651, 11160515
GO:0006816	Process	Calcium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030315	Component	T-tubule	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0051924	Process	Regulation of calcium ion transport	IDA	1309651
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	25527503
GO:0060402	Process	Calcium ion transport into cytosol	ISS	25527503
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	25527503
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	25527503
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	17224476
GO:0086048	Process	Membrane depolarization during bundle of His cell action potential	IMP	21383000
GO:0086057	Function	Voltage-gated calcium channel activity involved in bundle of His cell action potential	IMP	21383000
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	25527503
GO:0098703	Process	Calcium ion import across plasma membrane	ISS
GO:0098903	Process	Regulation of membrane repolarization during action potential	ISS	25527503
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0098992	Component	Neuronal dense core vesicle	IEA
GO:1902514	Process	Regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IGI	21883149
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149
GO:1990454	Component	L-type voltage-gated calcium channel complex	IBA
GO:1990454	Component	L-type voltage-gated calcium channel complex	IDA	1309651

Other IDs

• MIM: 114204
• HGNC: 1399
• e!Ensembl: ENSG00000153956

Protein

• UniProt ID: P54289
• Protein name: Voltage-dependent calcium channel subunit alpha-2/delta-1 (Voltage-gated calcium channel subunit alpha-2/delta-1) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-1; Voltage-dependent calcium channel subunit delta-1]
• Protein function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By simil
• PDB: 7MIX, 7MIY, 7UHF, 7UHG, 7VFS, 7VFU, 7VFV, 7VFW, 7XLQ, 7YG5, 8E59, 8E5A, 8E5B, 8EPL, 8EPM, 8FHS, 8HLP, 8HMA, 8HMB, 8IF3, 8IF4, 8WE6, 8WE7, 8WE8, 8WE9, 8WEA, 8X90, 8X91, 8X93
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08399	VWA_N	104 → 223	VWA N-terminal	Family
  PF00092	VWA	253 → 425	von Willebrand factor type A domain	Domain
  PF08473	VGCC_alpha2	644 → 1072	Neuronal voltage-dependent calcium channel alpha 2acd	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta. {E
• Sequence:

  MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDI
  YEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASN
  EVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVL
  NELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVDNSRTPNKIDLYDVRR
  RPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQD
  VSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIML
  FTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIR
  INTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLK
  NQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTIN
  LRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYI
  DKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTF
  IAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYW
  SKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYF
  NKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCD
  CKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDY
  QSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEM
  EDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVES
  KGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPS
  LWYIIGIQFLLLWLVSGSTHRLL

• Sequence length: 1103

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Developmental and epileptic encephalopathy 110	Pathogenic	rs2486042652, rs1389529434, rs780854867	RCV002464992 RCV002464993 RCV002464994

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Breast carcinoma	Conflicting classifications of pathogenicity	rs542692632	RCV003128250
Brugada syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs772938422, rs1554333593, rs761738920, rs770300395, rs1035408693, rs1792390693, rs1386287681, rs139439725, rs780560452, rs772889955, rs149828018, rs199542348, rs141344702, rs765637188, rs565135307, rs183290212, rs184261698, rs2130638150, rs1008923000, rs1799868121, rs1172160373, rs1300446703, rs530040333, rs558175396, rs1800182460, rs2131202393, rs1795907782, rs770350248, rs768028784, rs568821967, rs1040607096, rs774634676, rs2130422241, rs538190370, rs1796550348, rs2130885006, rs145809709, rs1169691935, rs756029866, rs1440293365, rs199857487, rs367960608, rs762936617, rs532460440, rs201932919, rs1554387291, rs774076778, rs144936173, rs4019047, rs747509072, rs556022468, rs377337212, rs2129931750, rs1243465087, rs752496490, rs774978800, rs779135778, rs750969626, rs751204853, rs991607267, rs1024010075, rs2130949881, rs955984125, rs749965891, rs770715906, rs745501384, rs748988843, rs1434289035, rs1794790861, rs2130173741, rs145110338, rs375174760, rs1218084026, rs767475523, rs1454596711, rs769700955, rs1562870772, rs2130421265, rs1365919214, rs143631985, rs2131202672, rs956966352, rs1379575076, rs2129932628, rs2130335993, rs768768419, rs372555571, rs374070810, rs1214105842, rs373911809, rs776559898, rs766849009, rs2130187077, rs1379942443, rs1794453039, rs2130867687, rs367553287, rs766067770, rs532261094, rs780057040, rs2130336971, rs758260884, rs1795625802, rs143995526, rs754772847, rs370496790, rs117959542, rs187849336, rs368512946, rs142965905, rs150414062, rs2130667478, rs753020973, rs376879282, rs760642663, rs2130246839, rs2129460343, rs548109932, rs754041784, rs2130798402, rs1343233163, rs777223558, rs1817830741, rs749757910, rs752369061, rs1830666860, rs995732237, rs369435463, rs754217639, rs776181564, rs765175609, rs1043041322, rs973445005, rs771474248, rs72239441, rs564122741, rs376032102, rs182676195, rs1803540058, rs748486095, rs2128985236, rs566289758, rs5885290, rs761439392, rs548221134, rs775601344, rs756130642, rs1562992730, rs2130647213, rs1237376693, rs773518022, rs769849031, rs2130423307, rs771189795, rs749391834, rs2487077468, rs1391044777, rs1342483559, rs578023934, rs1817832156, rs907675882, rs151327713, rs759988243, rs1410295138, rs76684172, rs775067204, rs771969809, rs1199084944, rs147360048, rs1197976924, rs540691116, rs2484959900, rs762286086, rs759003114, rs767965086, rs751430979, rs1409507624, rs1321225032, rs770791780, rs1344418209, rs1331324030, rs373348181, rs747500641, rs749722010, rs754533216, rs375733834, rs2484588370, rs745954855, rs370574759, rs370508265, rs2484424120, rs773515716, rs770049522, rs201755371, rs2485118339, rs1264208581, rs562957992, rs946926708, rs780509781, rs952619817, rs753580116, rs774975279, rs2485619497, rs751727946, rs770556456, rs2488142522, rs750788302, rs2487083397, rs1477073387, rs201211703, rs773632215, rs758956960, rs376087769, rs1819621561, rs777197885, rs754470299, rs1365855025, rs145061599, rs1235710029, rs370725491, rs756630395, rs2484961234, rs554171052, rs769946298, rs760966998, rs2485118758, rs770950993, rs1794451842, rs2484671165, rs1276335298, rs2484781717, rs895334993, rs1002391339, rs753474325, rs760126352, rs1287365625, rs1296231803, rs370836520, rs2484586017, rs2484425341, rs2484672946, rs2484496918, rs756643377, rs1252527272, rs374612462, rs1167714965, rs2484527713, rs2485699416, rs1405416387, rs1168448448, rs1351760019, rs2484405631, rs185600365, rs752401774, rs79127167, rs764920745, rs749882534, rs3083235, rs774323684, rs142849270, rs1461932151, rs1338611631, rs965520280, rs768408345, rs2485698287, rs558261918, rs1795913550, rs1794473855, rs533025081, rs1056138663, rs1796548568, rs2484795501, rs1346738610, rs2484466855, rs2485243533, rs2484527852, rs2484496866, rs757607965, rs869025369, rs75158917, rs73151504, rs138331326, rs79216498, rs371500586, rs149333241, rs1258676891, rs1229502, rs2229952, rs138577227, rs35131433, rs146250893, rs142553634, rs886039110, rs199512133, rs202108848, rs756707031, rs773908607, rs758561622, rs2485141712, rs2487080147, rs1172981825, rs1214386291, rs368722645, rs765115025, rs1554330635, rs777023624, rs2486412717, rs528189364, rs2484907511, rs776939237, rs1184463555, rs890005272, rs551797425, rs779720903, rs761035531, rs1193714632, rs2485000638, rs767195311, rs747054162, rs1346273690, rs749395509, rs1374964378, rs775065125, rs2486107886, rs2485270272, rs1319530763, rs758571613, rs1554351598, rs2484782921, rs2484411331, rs2492771527, rs2484192741, rs1810263158, rs66474649, rs2484471886, rs748560216, rs1302414558, rs367790770, rs2487477741, rs2484527402, rs2487476888, rs2486042272, rs1789146053, rs774376615, rs2484528610, rs1173558405, rs776720930, rs2484538391, rs2486137783, rs2485141763, rs143230847, rs955873996, rs1794984725, rs762328666, rs2485000261, rs775140112, rs2484603999, rs2484347747, rs1285172483, rs201782873, rs1183114112, rs1274978372, rs773980191, rs2485270612, rs1794643989, rs775862838, rs761139883, rs1239458608, rs750697000, rs1248592839, rs150594547, rs2486108017, rs759152665, rs78151113, rs761109570, rs555595565, rs1201336704, rs2484192896, rs2486042394, rs2486042161, rs1219447657, rs1330096002, rs1324013633, rs2484466659, rs764371870, rs775523046, rs1414169983, rs191213592, rs201682618, rs767963200, rs771850068, rs1046985886, rs560674806, rs367841992, rs372039045, rs763839433, rs761279886, rs37133, rs146819424, rs112176710, rs757313687, rs192741898, rs78086631, rs1060503151, rs749398266, rs1064795828, rs765696205, rs141238313, rs1248422043, rs773095610, rs1281680153, rs1554398187, rs771243374, rs370816599, rs1554345090, rs200817801, rs1554560384, rs538712996, rs147728344, rs142390338, rs751143429, rs1410751702, rs78174406, rs140492813, rs200882576, rs559623642, rs550794714, rs778907208, rs750119271, rs111772206, rs375141743, rs199645602, rs753918568, rs200166451, rs77599790, rs1554333976, rs76594260, rs201578104, rs148592476, rs149406906, rs773360358, rs768081623, rs139597562, rs139608070, rs147499376, rs777463785, rs542692632, rs200510364, rs917105846, rs552468945, rs780901801, rs1554349582, rs201901297, rs1554327285, rs1554333986, rs756765026, rs1163800062, rs1477267428, rs748929082, rs145109446, rs1218449046, rs758369222, rs1554330432, rs1584210392, rs1584331322, rs372164615, rs375189396, rs780748693, rs148283249, rs554101334, rs374073497, rs370389203, rs1584191523, rs1584688167, rs748581194, rs1584281988, rs1457933535, rs1015793463, rs773781850, rs1799865602, rs774697812, rs79571328, rs1268971839, rs775481386, rs80063198, rs200298945, rs111888027, rs752092062, rs1461155317, rs757840920, rs1021370066	RCV001321187 RCV001312589 RCV001314130 RCV001320690 RCV001317306 RCV001342786 RCV001351224 RCV001348264 RCV001362899 RCV001367074 RCV001368732 RCV001415681 RCV001412084 RCV001398742 RCV001416086 RCV001438920 RCV001426409 RCV001441991 RCV001433988 RCV001427834 RCV001434466 RCV001468143 RCV001462104 RCV001467917 RCV001466093 RCV001453927 RCV001478165 RCV001477252 RCV001482290 RCV001486061 RCV001497616 RCV001497078 RCV001504840 RCV001490906 RCV001488571 RCV001480278 RCV001482757 RCV001489607 RCV001493786 RCV001506384 RCV001490873 RCV001513155 RCV001514984 RCV001509820 RCV001512032 RCV001511955 RCV002073262 RCV002073286 RCV002538641 RCV003655337 RCV002074035 RCV001988852 RCV002038926 RCV002039029 RCV001958010 RCV001957786 RCV002015396 RCV001961510 RCV001864696 RCV001920997 RCV002014453 RCV001936394 RCV002019256 RCV002019300 RCV001992133 RCV001942379 RCV001969676 RCV001999277 RCV001977101 RCV001923617 RCV002012068 RCV002007915 RCV002048658 RCV002042578 RCV001987832 RCV001971379 RCV002028863 RCV001960158 RCV001884691 RCV002008018 RCV001926451 RCV001974404 RCV002006692 RCV002004213 RCV002049826 RCV002037234 RCV001997967 RCV001915484 RCV001938691 RCV001932833 RCV001885828 RCV001960243 RCV001881864 RCV001980682 RCV002009074 RCV001937885 RCV001997674 RCV002021808 RCV001998102 RCV002003956 RCV002041313 RCV002038348 RCV002153222 RCV002134225 RCV002165326 RCV002084339 RCV002141065 RCV002182959 RCV002139923 RCV002124031 RCV002157526 RCV002086409 RCV002091738 RCV002155367 RCV002138682 RCV002174691 RCV002131457 RCV002177270 RCV002215738 RCV002189738 RCV002189766 RCV002107345 RCV002074557 RCV002083011 RCV002138346 RCV002218378 RCV002108278 RCV002161615 RCV002161782 RCV002101994 RCV002098073 RCV002090074 RCV002196342 RCV002212079 RCV002160541 RCV002091901 RCV002158933 RCV002167156 RCV002115386 RCV002138065 RCV002126299 RCV002180374 RCV002112453 RCV002108531 RCV002137030 RCV002144677 RCV002144771 RCV002117088 RCV002211594 RCV002103642 RCV002142238 RCV002217339 RCV002204248 RCV002090721 RCV002088714 RCV002193924 RCV002175456 RCV002171114 RCV002073927 RCV002078787 RCV002117695 RCV002303090 RCV002301927 RCV002297409 RCV002299317 RCV002299741 RCV005096201 RCV000464539 RCV003099353 RCV005058449 RCV005097044 RCV005097558 RCV005097718 RCV003095116 RCV003096961 RCV003539445 RCV003655381 RCV003097040 RCV003655386 RCV005097685 RCV003655392 RCV005098046 RCV003097425 RCV005098082 RCV003101978 RCV003655396 RCV005098354 RCV003102883 RCV003102994 RCV003103026 RCV003775403 RCV003102809 RCV003102929 RCV002472266 RCV003060694 RCV003066632 RCV003070748 RCV003073802 RCV003068400 RCV003041452 RCV003062830 RCV003067416 RCV003083347 RCV003074748 RCV003077638 RCV003085749 RCV003074667 RCV003083469 RCV003090228 RCV003086536 RCV003092397 RCV002598827 RCV002588719 RCV002614776 RCV002592224 RCV002651048 RCV002651057 RCV002654755 RCV002632717 RCV002647523 RCV002647543 RCV003104737 RCV003119010 RCV003108346 RCV002576076 RCV002580146 RCV002570975 RCV002584438 RCV002571878 RCV002587330 RCV002695543 RCV002706639 RCV002695163 RCV002700911 RCV002696038 RCV002755283 RCV002712118 RCV002730615 RCV002741123 RCV002745798 RCV002775598 RCV002775627 RCV002776226 RCV002774916 RCV002756553 RCV002770816 RCV002834002 RCV002856225 RCV002829464 RCV002825482 RCV002848035 RCV002881059 RCV002890442 RCV002926635 RCV002907838 RCV002890098 RCV002895936 RCV002914143 RCV002927933 RCV002947487 RCV002941998 RCV002953173 RCV002948715 RCV002971980 RCV002963221 RCV000199032 RCV000196894 RCV001427344 RCV000200585 RCV002970728 RCV002971594 RCV002985230 RCV002996074 RCV002999511 RCV003013421 RCV003021579 RCV003021636 RCV003025649 RCV003025650 RCV003031407 RCV003019513 RCV003031202 RCV003042820 RCV003051820 RCV003027949 RCV003047955 RCV003048797 RCV000205324 RCV000203840 RCV000206851 RCV000208135 RCV001088274 RCV000233285 RCV003655405 RCV003539474 RCV005101077 RCV003539477 RCV003539478 RCV001080095 RCV000456811 RCV001484124 RCV001080779 RCV001859468 RCV001088810 RCV002518716 RCV000466825 RCV000536261 RCV001854972 RCV005102683 RCV003655416 RCV005103982 RCV003539581 RCV003539597 RCV003539544 RCV003539507 RCV003539705 RCV003539714 RCV003539613 RCV003539615 RCV003539617 RCV003539691 RCV003539722 RCV003539752 RCV003540101 RCV003540064 RCV003539729 RCV003540043 RCV003540081 RCV003540126 RCV003539725 RCV003540106 RCV003540138 RCV003540209 RCV003540203 RCV003540205 RCV003540151 RCV003540194 RCV003540213 RCV003540372 RCV003540324 RCV003540337 RCV003540317 RCV003540366 RCV003540445 RCV003540385 RCV003540453 RCV003655513 RCV003655515 RCV003655493 RCV003655582 RCV003655548 RCV003655564 RCV003655639 RCV003655670 RCV003655719 RCV003655649 RCV003655811 RCV003655756 RCV003655763 RCV003655802 RCV003655847 RCV003655864 RCV003655878 RCV003655890 RCV003655888 RCV003655924 RCV003655955 RCV003655970 RCV003656021 RCV003655998 RCV003656000 RCV003656001 RCV003656033 RCV003656044 RCV003654459 RCV003654490 RCV003654559 RCV003654619 RCV003654579 RCV003654581 RCV003654750 RCV003654776 RCV003654704 RCV003654912 RCV003654872 RCV003654899 RCV003654825 RCV003654826 RCV003654919 RCV003814393 RCV003810711 RCV003810731 RCV003839059 RCV003829310 RCV003843872 RCV003842735 RCV003855587 RCV003867028 RCV003866260 RCV003864333 RCV003876435 RCV003879042 RCV003864886 RCV003878079 RCV005059504 RCV005100756 RCV005100757 RCV001085382 RCV000823542 RCV005090855 RCV002060038 RCV002060061 RCV002522555 RCV002060056 RCV001481209 RCV003539891 RCV000638765 RCV002056675 RCV000463253 RCV001088629 RCV001078617 RCV000458553 RCV001078746 RCV000474040 RCV000473414 RCV000463665 RCV000469160 RCV000465529 RCV001865458 RCV001211819 RCV001306235 RCV000692336 RCV000544197 RCV000530238 RCV000543769 RCV000542979 RCV000534464 RCV000526283 RCV000550288 RCV000559939 RCV000554213 RCV000537528 RCV000551489 RCV000866100 RCV000638807 RCV000861219 RCV001855228 RCV002062153 RCV002064388 RCV002062194 RCV001400053 RCV001465678 RCV002065410 RCV001489988 RCV001431775 RCV002062841 RCV002064273 RCV001522606 RCV002529451 RCV002066778 RCV002064387 RCV002528691 RCV001860333 RCV002064386 RCV002062916 RCV002529426 RCV001480373 RCV001516910 RCV001860348 RCV002066584 RCV002528813 RCV003655148 RCV002531794 RCV000638659 RCV001513154 RCV001860387 RCV001080881 RCV001366765 RCV001425974 RCV000638790 RCV003655146 RCV001397863 RCV000638668 RCV000638707 RCV000638808 RCV000638652 RCV000638651 RCV000638716 RCV000701879 RCV000704650 RCV000704599 RCV000703640 RCV000707284 RCV002535817 RCV000809634 RCV000800537 RCV000819194 RCV000821321 RCV000801707 RCV002067434 RCV000862954 RCV001078807 RCV002064635 RCV001429960 RCV000869793 RCV001482844 RCV001458761 RCV001858885 RCV002067632 RCV001061225 RCV001066232 RCV001052081 RCV001038227 RCV001042620 RCV001052319 RCV001219041 RCV001222687 RCV001224332 RCV001202884 RCV001204084 RCV001225447 RCV001229540 RCV001239964 RCV001236768 RCV001301088
Brugada syndrome 1	Conflicting classifications of pathogenicity	rs542692632	RCV003388838
CACNA2D1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs757607965, rs1430029895, rs1394865092, rs368134438, rs773515716, rs1219922529, rs191213592, rs146819424, rs78086631, rs370816599, rs538712996, rs142390338, rs770350248, rs111772206, rs3083235, rs144936173, rs370103843, rs201901297, rs756765026, rs148283249	RCV003955231 RCV003399700 RCV003961661 RCV003944575 RCV003932211 RCV003927378 RCV003957888 RCV003960113 RCV003925381 RCV003925636 RCV003927981 RCV003905606 RCV003953049 RCV003935677 RCV003980195 RCV003945562 RCV003980194 RCV003937923 RCV003420117 RCV003938231
Cardiac arrest	Benign; Likely benign; Conflicting classifications of pathogenicity	rs151327713, rs542692632	RCV000157129 RCV003128250
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs772938422, rs761738920, rs1035408693, rs1386287681, rs139439725, rs772889955, rs149828018, rs141344702, rs565135307, rs184261698, rs558175396, rs770350248, rs768028784, rs568821967, rs1040607096, rs538190370, rs1796550348, rs145809709, rs199857487, rs762936617, rs370103843, rs1388726184, rs758369222, rs144936173, rs747509072, rs556022468, rs2129931750, rs1243465087, rs774978800, rs779135778, rs750969626, rs751204853, rs991607267, rs749965891, rs745501384, rs1434289035, rs145110338, rs375174760, rs1218084026, rs1454596711, rs143631985, rs1379575076, rs2129932628, rs768768419, rs1214105842, rs373911809, rs766849009, rs766067770, rs532261094, rs2130336971, rs143995526, rs368512946, rs142965905, rs150414062, rs749757910, rs752369061, rs995732237, rs369435463, rs754217639, rs973445005, rs1803540058, rs775601344, rs1342483559, rs907675882, rs151327713, rs2484192534, rs2485271020, rs2487082101, rs2485619613, rs2487478155, rs1554412676, rs1185643286, rs2484344685, rs2484190970, rs758341913, rs759988243, rs1795907782, rs965520280, rs1380239660, rs2487079378, rs2485269878, rs1800178573, rs1231904706, rs187418422, rs1302599308, rs746712870, rs930122079, rs2486140426, rs2486106913, rs1428397543, rs1406534856, rs1209027578, rs1819617403, rs1410295138, rs1426130299, rs1169810924, rs756230216, rs76684172, rs1369924027, rs1433556935, rs775067204, rs950814665, rs771969809, rs2130867186, rs1199084944, rs939785002, rs2484907850, rs1295381429, rs1463648829, rs2485207971, rs2485143168, rs2491022253, rs561504754, rs746665546, rs147360048, rs1197976924, rs1167714965, rs540691116, rs2484959900, rs754212778, rs2130666327, rs2484795336, rs1256753069, rs199961189, rs2485123631, rs750302005, rs762286086, rs748757221, rs1382313897, rs140583625, rs759003114, rs2484586391, rs767965086, rs1276364854, rs756810014, rs2484671585, rs761234382, rs2490723033, rs2484527713, rs751430979, rs372607783, rs1483019132, rs1409507624, rs778071183, rs1484996629, rs1321225032, rs1554331310, rs1316113850, rs1013862654, rs775842827, rs1292115863, rs1285071872, rs2484469443, rs769219661, rs770791780, rs1344418209, rs1391044777, rs2488144335, rs1554328829, rs1794451842, rs1168422279, rs1563385805, rs774285483, rs1331324030, rs373348181, rs1793878893, rs747500641, rs745875905, rs111888027, rs749722010, rs754533216, rs1341944383, rs1252245406, rs375733834, rs1284820554, rs201755371, rs2485118339, rs562957992, rs774975279, rs770556456, rs201211703, rs777197885, rs1235710029, rs770950993, rs1276335298, rs3083235, rs774323684, rs1338611631, rs768408345, rs1794473855, rs533025081, rs757607965, rs142849270, rs1263007050, rs75158917, rs73151504, rs2484586266, rs1819617166, rs866283042, rs1241522490, rs1238935984, rs138331326, rs371637177, rs79216498, rs371500586, rs149510838, rs1453763145, rs149333241, rs1258676891, rs1229502, rs2229952, rs138577227, rs35131433, rs146250893, rs760733417, rs886039076, rs142553634, rs886039110, rs199512133, rs202108848, rs756707031, rs1408247394, rs2484628966, rs2484604475, rs752496490, rs1799063241, rs2491022437, rs2129444343, rs1554343877, rs1802876912, rs1807337861, rs2484817774, rs2485143401, rs2492773859, rs1325331073, rs773908607, rs770723145, rs2485142481, rs1335680016, rs1351471407, rs2486416081, rs758561622, rs781179302, rs1035951302, rs2484604173, rs986906436, rs2484190882, rs1340629145, rs2487079777, rs1346738610, rs1037448033, rs1193714632, rs1374964378, rs1810263158, rs1789146053, rs774376615, rs773980191, rs1248592839, rs150594547, rs578023934, rs555595565, rs1173309440, rs367588698, rs752441652, rs745840414, rs2130870236, rs1459896822, rs2484959633, rs2484818897, rs1397739989, rs2484781853, rs779137994, rs2130456001, rs2484628796, rs200298945, rs746924720, rs2484540023, rs775523046, rs1489580089, rs761648569, rs1793884144, rs1793881624, rs781386587, rs777936831, rs1414169983, rs2487079960, rs775722585, rs746128364, rs757219324, rs1304235878, rs191213592, rs201682618, rs767963200, rs372039045, rs776720930, rs763839433, rs761279886, rs37133, rs146819424, rs757313687, rs192741898, rs78086631, rs749398266, rs1064795828, rs765696205, rs141238313, rs1281680153, rs771243374, rs147728344, rs142390338, rs140492813, rs550794714, rs753918568, rs1554333976, rs76594260, rs148592476, rs1323924657, rs780771206, rs773360358, rs768081623, rs139597562, rs139608070, rs377181609, rs1554333968, rs147499376, rs777463785, rs542692632, rs200510364, rs1554349590, rs1348576976, rs1554412653, rs917105846, rs552468945, rs780901801, rs756765026, rs1477267428, rs748929082, rs145109446, rs1218449046, rs372164615, rs375189396, rs780748693, rs148283249, rs374073497, rs187849336, rs370389203, rs748581194, rs1457933535, rs1015793463, rs773781850, rs1799865602, rs79571328, rs1268971839, rs775481386, rs80063198, rs1461155317, rs1021370066	RCV003284190 RCV003284175 RCV003166822 RCV002395780 RCV004601466 RCV002438855 RCV002341794 RCV002395933 RCV002322422 RCV002420959 RCV002421062 RCV002359072 RCV003284345 RCV002319720 RCV002439194 RCV002421126 RCV002414181 RCV002432355 RCV002396175 RCV002449340 RCV002449342 RCV002361001 RCV002421243 RCV006352367 RCV002414299 RCV005535229 RCV003289407 RCV002324376 RCV006357122 RCV005792249 RCV002422908 RCV004043485 RCV002423257 RCV004041862 RCV005308534 RCV004045929 RCV004603078 RCV002441221 RCV004045985 RCV004043785 RCV004046120 RCV002324434 RCV006352439 RCV002324216 RCV002449551 RCV002425160 RCV004996140 RCV002335022 RCV004990543 RCV002372814 RCV003303660 RCV002427698 RCV002409582 RCV006357338 RCV002409549 RCV004046377 RCV003339933 RCV002427678 RCV002361422 RCV002391361 RCV005794312 RCV005308707 RCV004046467 RCV002427654 RCV004603195 RCV002445475 RCV000247089 RCV002322788 RCV002322988 RCV002459204 RCV002333462 RCV002454734 RCV002452345 RCV002375711 RCV002320508 RCV002320716 RCV002324847 RCV002324903 RCV002445723 RCV002325049 RCV002357573 RCV002323477 RCV002330548 RCV002338392 RCV002340492 RCV002353394 RCV002360337 RCV002337655 RCV002360100 RCV002354128 RCV002375785 RCV002375817 RCV002394193 RCV002373626 RCV002362099 RCV002374149 RCV002385399 RCV002364759 RCV002364795 RCV002375945 RCV002383411 RCV002390027 RCV002392292 RCV002414502 RCV002401388 RCV002407532 RCV002389495 RCV002405416 RCV002405718 RCV002394998 RCV002407444 RCV002399255 RCV002399264 RCV002385594 RCV002396623 RCV002396625 RCV002389072 RCV002389101 RCV002397018 RCV002397041 RCV002403240 RCV002394900 RCV002398950 RCV002404193 RCV002415137 RCV002415248 RCV002415336 RCV002380830 RCV002394520 RCV002398721 RCV002406176 RCV002412857 RCV002421987 RCV002417914 RCV002443866 RCV002445946 RCV002445998 RCV002428638 RCV002408144 RCV002419812 RCV002432430 RCV002432569 RCV002455560 RCV002417419 RCV002428102 RCV002448191 RCV002457642 RCV002457666 RCV002433355 RCV002425959 RCV002452775 RCV002426060 RCV002437452 RCV002425539 RCV002457518 RCV002433178 RCV002433180 RCV002453074 RCV002437338 RCV002441591 RCV002440186 RCV002440208 RCV002441937 RCV002442023 RCV002453226 RCV002437555 RCV002439939 RCV002439962 RCV002439981 RCV002438175 RCV002444176 RCV002444265 RCV002435432 RCV002435494 RCV002437601 RCV002437708 RCV002437975 RCV002435678 RCV002442039 RCV002435510 RCV004070318 RCV005535509 RCV004603285 RCV004073148 RCV006342808 RCV004070758 RCV004992562 RCV003164785 RCV004067635 RCV005308822 RCV004067810 RCV000252681 RCV002336536 RCV004990936 RCV004068455 RCV003170826 RCV005535491 RCV005535492 RCV002399764 RCV002453748 RCV004144756 RCV000245353 RCV000246919 RCV003177157 RCV003177158 RCV003177159 RCV003177160 RCV003177161 RCV003177162 RCV003177163 RCV003177164 RCV003171490 RCV003177165 RCV003177166 RCV003214085 RCV003214086 RCV000245967 RCV000251668 RCV002347953 RCV000243578 RCV000247631 RCV000247368 RCV000245654 RCV000253519 RCV000246425 RCV000253019 RCV000245597 RCV000248832 RCV004315881 RCV004316247 RCV004322472 RCV003310144 RCV003301846 RCV003288441 RCV003301847 RCV003288442 RCV003288443 RCV003301848 RCV003288444 RCV003288445 RCV003301849 RCV003301850 RCV003301851 RCV003288447 RCV004333279 RCV003339021 RCV003341662 RCV003339022 RCV003339023 RCV003339024 RCV003339025 RCV003339026 RCV003341663 RCV003341664 RCV003339027 RCV003355961 RCV004352239 RCV003377513 RCV004604946 RCV004369134 RCV006343040 RCV004992688 RCV004992710 RCV004604995 RCV005537661 RCV005537665 RCV004374365 RCV005537707 RCV004366935 RCV005311109 RCV004432319 RCV004520930 RCV004520931 RCV004520932 RCV004520933 RCV004520934 RCV004520935 RCV004520936 RCV004520937 RCV004520938 RCV004520939 RCV004520940 RCV004520941 RCV004520942 RCV004520943 RCV004520944 RCV004520945 RCV004520946 RCV004520947 RCV004520948 RCV004520949 RCV004520950 RCV004520951 RCV004520952 RCV004520953 RCV004520954 RCV004520955 RCV004520956 RCV004520957 RCV004520958 RCV004520959 RCV002446638 RCV002411279 RCV002436345 RCV002339094 RCV002436363 RCV002411395 RCV002402220 RCV000619712 RCV002367612 RCV003168844 RCV000617848 RCV002323740 RCV004992239 RCV000619581 RCV005791869 RCV005532668 RCV002383935 RCV002376885 RCV002456102 RCV002404420 RCV002384096 RCV002341305 RCV002431789 RCV000617165 RCV002368095 RCV002358699 RCV000621736 RCV002358735 RCV003338683 RCV000617203 RCV002431822 RCV000619263 RCV000618295 RCV000619703 RCV000620855 RCV000620182 RCV000621890 RCV000621841 RCV000617955 RCV000620772 RCV000619653 RCV000619711 RCV000619272 RCV000619896 RCV000620811 RCV000619000 RCV000620655 RCV000621295 RCV000620019 RCV000618302 RCV000618073 RCV004601232 RCV002331150 RCV002388337 RCV004026664 RCV002440526 RCV005306139 RCV003372884 RCV002352365 RCV002352479 RCV002399866 RCV002434108 RCV002453967 RCV002352566 RCV002445153 RCV004031948 RCV002429721 RCV002400299 RCV004031066 RCV002365698 RCV004032346 RCV002411822 RCV002348752 RCV002393452 RCV004033602 RCV002436876 RCV003166496 RCV004036189
Cervical cancer	Benign	rs4019047	RCV005868588
Cholangiocarcinoma	Benign	rs59684283	RCV005902191
Clear cell carcinoma of kidney	Benign; Likely benign	rs370103843	RCV005870679
Colon adenocarcinoma	Benign; Likely benign	rs3083235	RCV005869481
Gastric cancer	Benign; Likely benign	rs367960608, rs37135, rs4019047, rs370103843, rs59684283	RCV005867102 RCV005925257 RCV005868590 RCV005870680 RCV005902189
Hepatocellular carcinoma	Benign	rs548221134	RCV005868638
Long QT syndrome	Uncertain significance	rs730880057, rs770723145	RCV000157128 RCV003318444
Lung cancer	Likely benign; Benign	rs368134438, rs59684283	RCV005933346 RCV005902192
Malignant lymphoma, large B-cell, diffuse	Benign	rs142849270	RCV005868112
Malignant tumor of esophagus	Benign	rs142849270	RCV005868111
Neurodevelopmental disorder	Uncertain significance	rs1799276414	RCV001262365
Ovarian cancer	Benign	rs4019047	RCV005868589
Ovarian serous cystadenocarcinoma	Uncertain significance	rs1231904706	RCV005931857
Paroxysmal atrial fibrillation	Conflicting classifications of pathogenicity	rs542692632	RCV003128250
Sarcoma	Benign	rs59684283	RCV005902188
Short QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs756707031, rs758369222	RCV000853605 RCV000790447
Thymoma	Benign	rs59684283	RCV005902190
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs370103843, rs142849270, rs59684283	RCV005868350 RCV005868113 RCV005902193
Ventricular fibrillation	Conflicting classifications of pathogenicity	rs542692632	RCV003128250

Associations from Text Mining
Disease Name	Relationship Type	References
Arrhythmias Cardiac	Associate	39354346
Autistic Disorder	Associate	25074461
Bipolar Disorder	Associate	24882193
Carcinoma Hepatocellular	Associate	26420065
Chest Pain	Associate	39354346
Coronary Disease	Associate	37679988
COVID 19	Associate	36104591
Death Sudden Cardiac	Associate	39354346
Drug Related Side Effects and Adverse Reactions	Associate	19129090
Electric Injuries	Associate	39354346
Endometrial Neoplasms	Associate	36231119
Epilepsy	Associate	25074461
Epilepsy Rolandic	Associate	29789371
Heart Diseases	Associate	39354346
Intellectual Disability	Associate	25074461
Laryngeal Neoplasms	Associate	31725046
Lymphoma T Cell Peripheral	Associate	26536348
Malignant Hyperthermia	Associate	8707301
Neoplasms	Associate	26420065
Neuroma Acoustic	Associate	31146115
Obesity	Associate	25074461
Polypoidal Choroidal Vasculopathy	Associate	29789371
Progeria	Associate	34298947
Schizophrenia	Associate	25074461
Short QT Syndrome 1	Associate	21383000
Squamous Cell Carcinoma of Head and Neck	Associate	31725046
Tobacco Use Disorder	Associate	36104591
Ventricular Fibrillation	Associate	21383000
Williams Syndrome	Associate	8707301