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

Gene

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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	16525042
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005246	Function	Calcium channel regulator activity	IDA	11880487
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16525042, 25910212, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	16525042
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11880487, 16525042
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IBA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	TAS	16385006
GO:0014051	Process	Gamma-aminobutyric acid secretion	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0045202	Component	Synapse	IDA	16525042
GO:0045202	Component	Synapse	IEA
GO:0046058	Process	CAMP metabolic process	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048541	Process	Peyer's patch development	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IMP	11880487
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099509	Process	Regulation of presynaptic cytosolic calcium ion concentration	IEA
GO:0099626	Function	Voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IEA
GO:1904751	Process	Positive regulation of protein localization to nucleolus	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

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

Protein

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

  Pfam

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

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

  MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPS
  DSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISF
  DAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNS
  SSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQK
  ALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIF
  ELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQ
  LVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGS
  TALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQH
  SRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL

• Sequence length: 520

Pathways

KEGG:

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

Reactome:

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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Epilepsy, idiopathic generalized, susceptibility to, 9	Pathogenic	rs1057518688	RCV000414849
Spastic ataxia	Likely pathogenic	rs2151410142	RCV001647152

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CACNB4-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs1280727573, rs201870832, rs2293219, rs1805029, rs200092211, rs754380009, rs139448267, rs200662010, rs1805031, rs765688685, rs1044229512, rs2099844871, rs373222155, rs369276166, rs773391545, rs369342902	RCV004536158 RCV004530074 RCV004530075 RCV004530076 RCV004535183 RCV004539595 RCV004539735 RCV004537572 RCV004532307 RCV004536780 RCV004532028 RCV004545710 RCV004539802 RCV004541603 RCV004535669 RCV004541604
Cervical cancer	Benign	rs78697588	RCV005895954
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs78697588	RCV005895958
Epilepsy, juvenile myoclonic, susceptibility to, 6	risk factor	rs1805032	RCV000008045
Episodic ataxia type 5	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs1805028, rs143442080, rs61736804, rs41270209, rs1805029, rs143675846, rs200092211, rs556761275, rs762394421, rs200662010, rs542973906, rs1805031, rs886054951, rs111700454, rs563567053, rs1568673, rs16830412, rs113408437, rs148903851, rs886054954, rs886054957, rs114341631, rs80306085, rs758893086, rs886054960, rs112989362, rs766545084, rs755272601, rs538829019, rs187012852, rs192309143, rs191424720, rs373381936, rs543493236, rs10497086, rs138327808, rs114659375, rs144329745, rs143821304, rs548234328, rs764877003, rs886054959, rs181447432, rs886054961, rs114958916, rs13410490, rs558590558, rs111999910, rs7597215, rs886054968, rs886054970, rs185830609, rs74944346, rs80248494, rs549017506, rs781255950, rs116457978, rs72868010, rs78697588, rs779110885, rs886054967, rs886054969, rs886054950, rs118093432, rs886054952, rs150406641, rs548177540, rs537140595, rs763593694, rs886054953, rs778742650, rs2344734, rs567549082, rs886054955, rs886054956, rs74894311, rs139629003, rs886054958, rs113319414, rs62174451, rs886054962, rs147608603, rs142139235, rs367723727, rs75365487, rs747291810, rs2552286731, rs768385119, rs773391545, rs958254778, rs751754026, rs764332480, rs573977862, rs2099834315, rs772165308, rs112953474, rs1054921749, rs777071036, rs2099834394, rs554144457, rs931913677, rs2099834590, rs193274639, rs921799142, rs1344787388, rs2099834659, rs763467769, rs2099834679, rs1414558138, rs138740858, rs569271176, rs140144615, rs2099834953, rs967051998, rs370681136, rs1166952506, rs2099835179, rs2099835183, rs1471328839, rs1218637551, rs780434757, rs1168191946, rs554995802, rs1000315079, rs568825260, rs1190207749, rs373677349, rs775115799, rs2099844885, rs2099846296, rs2099834151, rs1199532180, rs2099834229	RCV000327378 RCV000354232 RCV000287797 RCV000286770 RCV000262971 RCV000282574 RCV000286296 RCV000302478 RCV003233493 RCV000271279 RCV000376086 RCV000008047 RCV000323711 RCV000313922 RCV000396360 RCV000307038 RCV000262865 RCV000359323 RCV000327366 RCV000284958 RCV000351755 RCV000396374 RCV000320944 RCV000351395 RCV000354017 RCV000396159 RCV000405646 RCV000306401 RCV000403745 RCV000374593 RCV000280166 RCV000352226 RCV000386227 RCV000340073 RCV000369797 RCV000287091 RCV000376392 RCV000281758 RCV000367207 RCV000360268 RCV000262230 RCV000305162 RCV000359708 RCV000333014 RCV000336818 RCV000366813 RCV000312395 RCV000265242 RCV000347650 RCV000396028 RCV000325118 RCV000315311 RCV000318901 RCV000300993 RCV000261117 RCV000331698 RCV000271786 RCV000396153 RCV000320742 RCV000323741 RCV000378640 RCV000273758 RCV000327295 RCV000378245 RCV000365237 RCV000361266 RCV000278076 RCV000293875 RCV000405343 RCV000398120 RCV000389604 RCV000342430 RCV000300093 RCV000396215 RCV000330200 RCV000403321 RCV000317550 RCV000387330 RCV000344887 RCV000389857 RCV000383678 RCV000327764 RCV000366087 RCV000378868 RCV000282146 RCV000299705 RCV003486030 RCV003147497 RCV000764271 RCV001131842 RCV001136144 RCV002505459 RCV001131841 RCV001135801 RCV001135802 RCV001135803 RCV001128817 RCV001128818 RCV001128819 RCV001131470 RCV001131471 RCV001131472 RCV001134454 RCV001134455 RCV001134456 RCV001134457 RCV001134458 RCV001135922 RCV001135923 RCV001128928 RCV001128929 RCV001131586 RCV001131587 RCV001131588 RCV001131589 RCV001132637 RCV001136010 RCV001136011 RCV001129043 RCV001129044 RCV001129045 RCV001131729 RCV001131730 RCV001132731 RCV001132732 RCV001132733 RCV001136142 RCV001136143 RCV001129160 RCV001129161 RCV001131336 RCV001134337 RCV001134338
Familial pancreatic carcinoma	Benign	rs78697588	RCV005895956
Hepatocellular carcinoma	Benign	rs78697588	RCV005895952
Hereditary episodic ataxia	Uncertain significance; Benign; Likely benign	rs374745796, rs886054963, rs11291336, rs187940787, rs560958457, rs879114509, rs886054966, rs79470866, rs886054971, rs75297236, rs376015337, rs886054949, rs372743707, rs552093496, rs183873853	RCV000344245 RCV000285897 RCV000364707 RCV000376459 RCV000352467 RCV000278945 RCV000388757 RCV000394045 RCV000337561 RCV000363528 RCV000343203 RCV000318982 RCV000333150 RCV000357428 RCV000403459 RCV000403497 RCV000369450 RCV000314711
Idiopathic generalized epilepsy	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs768245741, rs201700362, rs779341851, rs1354478341, rs2099844445, rs1805031, rs2151401327, rs778919621, rs1260619468, rs781542443, rs767662214, rs748444028, rs2151429916, rs200945311, rs776968687, rs2151353341, rs2151376464, rs1342246691, rs1805028, rs143442080, rs61736804, rs147647355, rs201870832, rs2293219, rs115324887, rs1805029, rs200092211, rs754380009, rs794727118, rs760115429, rs370263335, rs762394421, rs776608168, rs796052289, rs139448267, rs536646578, rs200662010, rs542973906, rs1057518634, rs529832815, rs748422887, rs553682728, rs373222155, rs1060503174, rs1060503173, rs377492950, rs755031838, rs369276166, rs773391545, rs958254778, rs1553740358, rs1553749683, rs558998873, rs770682557, rs766933826, rs779464772, rs532162701, rs768976112, rs749277227, rs1328517680, rs764343188, rs536470851, rs1367982719, rs751029383, rs1559871505, rs751754026, rs1559868500, rs746415223, rs1351243423, rs368111233, rs1306015107, rs1578499181, rs767538753, rs1454032027, rs373311758, rs766238244, rs764332480, rs1578558910, rs927678994, rs1291994687, rs573977862, rs761712022, rs529888359, rs752007243, rs1261256653, rs756966816, rs1169898698, rs2099844376, rs750116399, rs376364352, rs1304319164, rs2099835534, rs371263141, rs1277708441	RCV001325822 RCV001316814 RCV001327871 RCV001350274 RCV001339430 RCV001347257 RCV001369399 RCV001370262 RCV001368928 RCV001370191 RCV001445820 RCV001440204 RCV001433487 RCV001477694 RCV001471872 RCV001487833 RCV001502875 RCV001506083 RCV001512191 RCV000230955 RCV000476404 RCV000233757 RCV000634991 RCV000863388 RCV002055447 RCV000477503 RCV001079683 RCV001412999 RCV001496634 RCV000811960 RCV000812419 RCV000459626 RCV001043213 RCV001240861 RCV000227520 RCV000634989 RCV000471900 RCV000526121 RCV001081010 RCV000795541 RCV000918636 RCV000537074 RCV001509604 RCV001481746 RCV000469097 RCV000476220 RCV000475419 RCV001306262 RCV000902849 RCV000685212 RCV001036427 RCV000548611 RCV000547409 RCV001477894 RCV001364275 RCV000634992 RCV000635002 RCV000635000 RCV000634978 RCV000634993 RCV000634979 RCV000702715 RCV000685231 RCV000690063 RCV000698202 RCV000694060 RCV000687371 RCV000698742 RCV001315143 RCV000821157 RCV000801615 RCV000800021 RCV000816094 RCV000812074 RCV000797728 RCV000864635 RCV000866151 RCV001452018 RCV001437285 RCV000982241 RCV001463606 RCV001052489 RCV001059821 RCV001048276 RCV001045385 RCV001064488 RCV001044614 RCV001070992 RCV001214370 RCV001205260 RCV001205674 RCV001203110 RCV001210930 RCV001237213 RCV001403190 RCV001306983
Juvenile myoclonic epilepsy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs1805028, rs143442080, rs61736804, rs41270209, rs1805029, rs143675846, rs200092211, rs556761275, rs200662010, rs542973906, rs1805031, rs886054951, rs111700454, rs563567053, rs1568673, rs16830412, rs113408437, rs148903851, rs886054954, rs886054957, rs114341631, rs80306085, rs758893086, rs886054960, rs374745796, rs886054963, rs112989362, rs766545084, rs755272601, rs11291336, rs538829019, rs187012852, rs192309143, rs187940787, rs191424720, rs373381936, rs543493236, rs10497086, rs138327808, rs114659375, rs144329745, rs143821304, rs548234328, rs764877003, rs886054959, rs181447432, rs886054961, rs114958916, rs13410490, rs560958457, rs558590558, rs111999910, rs879114509, rs886054966, rs7597215, rs79470866, rs886054968, rs886054970, rs886054971, rs185830609, rs74944346, rs80248494, rs549017506, rs781255950, rs116457978, rs75297236, rs72868010, rs78697588, rs779110885, rs376015337, rs886054967, rs886054969, rs886054949, rs886054950, rs118093432, rs886054952, rs150406641, rs548177540, rs537140595, rs763593694, rs886054953, rs778742650, rs2344734, rs567549082, rs886054955, rs886054956, rs74894311, rs139629003, rs886054958, rs372743707, rs113319414, rs62174451, rs886054962, rs147608603, rs142139235, rs367723727, rs75365487, rs747291810, rs552093496, rs183873853	RCV000274587 RCV000275913 RCV000384571 RCV000339479 RCV000297125 RCV000372679 RCV000341315 RCV000359540 RCV000384411 RCV000321619 RCV000298698 RCV000287339 RCV000396355 RCV000350046 RCV000270694 RCV000318012 RCV000304614 RCV000381909 RCV000403234 RCV000396387 RCV000309131 RCV000265805 RCV000296437 RCV000301459 RCV000291671 RCV000382636 RCV000297046 RCV000334968 RCV000363450 RCV000395382 RCV000349261 RCV000338696 RCV000335281 RCV000321784 RCV000388152 RCV000291139 RCV000396193 RCV000275217 RCV000381516 RCV000321696 RCV000336781 RCV000312570 RCV000324254 RCV000375458 RCV000397728 RCV000262656 RCV000261529 RCV000302963 RCV000314554 RCV000295242 RCV000406529 RCV000357620 RCV000317663 RCV000296784 RCV000290411 RCV000341999 RCV000338383 RCV000270184 RCV000405754 RCV000353759 RCV000261338 RCV000264525 RCV000355999 RCV000276586 RCV000326803 RCV000269173 RCV000390715 RCV000354157 RCV000286696 RCV000266348 RCV000375926 RCV000385304 RCV000345086 RCV000369830 RCV000272271 RCV000381840 RCV000283818 RCV000310557 RCV000266635 RCV000372614 RCV000348750 RCV000308914 RCV000345132 RCV000316446 RCV000287445 RCV000354973 RCV000315461 RCV000366194 RCV000278142 RCV000372145 RCV000293547 RCV000346074 RCV000306323 RCV000274412 RCV000331415 RCV000274937 RCV000268950 RCV000326620 RCV000374384 RCV000308121 RCV000401935 RCV000314801 RCV000393297
Nonpapillary renal cell carcinoma	Benign	rs78697588	RCV005895953
Ovarian cancer	Benign	rs78697588	RCV005895955
Thymoma	Benign	rs78697588	RCV005895957

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