SLC8A3 (solute carrier family 8 member A3)

Gene

• Entrez ID: 6547
• Gene name: Solute carrier family 8 member A3
• Gene symbol: SLC8A3
• Synonyms: NCX3
• Chromosome: 14
• Chromosome location: 14q24.2
• Summary: This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions an

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT525957	hsa-miR-6769a-3p	PAR-CLIP	20371350
MIRT525956	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT525955	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT525954	hsa-miR-4257	PAR-CLIP	20371350
MIRT525953	hsa-miR-759	PAR-CLIP	20371350
MIRT525952	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT525948	hsa-miR-5008-5p	PAR-CLIP	20371350
MIRT525946	hsa-miR-5699-5p	PAR-CLIP	20371350
MIRT525945	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT525957	hsa-miR-6769a-3p	PAR-CLIP	20371350
MIRT525956	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT525955	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT525954	hsa-miR-4257	PAR-CLIP	20371350
MIRT525953	hsa-miR-759	PAR-CLIP	20371350
MIRT525952	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT525949	hsa-miR-6868-5p	PAR-CLIP	20371350
MIRT525948	hsa-miR-5008-5p	PAR-CLIP	20371350
MIRT525947	hsa-miR-298	PAR-CLIP	20371350
MIRT525946	hsa-miR-5699-5p	PAR-CLIP	20371350
MIRT525945	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT525957	hsa-miR-6769a-3p	PAR-CLIP	20371350
MIRT525956	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT525955	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT525954	hsa-miR-4257	PAR-CLIP	20371350
MIRT525953	hsa-miR-759	PAR-CLIP	20371350
MIRT525952	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT525948	hsa-miR-5008-5p	PAR-CLIP	20371350
MIRT525947	hsa-miR-298	PAR-CLIP	20371350
MIRT525946	hsa-miR-5699-5p	PAR-CLIP	20371350
MIRT525945	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT525957	hsa-miR-6769a-3p	PAR-CLIP	22012620
MIRT525956	hsa-miR-5000-5p	PAR-CLIP	22012620
MIRT525955	hsa-miR-6847-5p	PAR-CLIP	22012620
MIRT525954	hsa-miR-4257	PAR-CLIP	22012620
MIRT525953	hsa-miR-759	PAR-CLIP	22012620
MIRT525952	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT525951	hsa-miR-221-5p	PAR-CLIP	22012620
MIRT525950	hsa-miR-8073	PAR-CLIP	22012620
MIRT525949	hsa-miR-6868-5p	PAR-CLIP	22012620
MIRT525948	hsa-miR-5008-5p	PAR-CLIP	22012620
MIRT525947	hsa-miR-298	PAR-CLIP	22012620
MIRT525946	hsa-miR-5699-5p	PAR-CLIP	22012620
MIRT525945	hsa-miR-874-5p	PAR-CLIP	22012620
MIRT734620	hsa-miR-125a-3p	Luciferase reporter assay, Microarray, Immunofluorescence, Immunocytochemistry (ICC)	32163190
MIRT525957	hsa-miR-6769a-3p	PAR-CLIP	20371350
MIRT525956	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT525955	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT525954	hsa-miR-4257	PAR-CLIP	20371350
MIRT525953	hsa-miR-759	PAR-CLIP	20371350
MIRT525952	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT525948	hsa-miR-5008-5p	PAR-CLIP	20371350
MIRT525946	hsa-miR-5699-5p	PAR-CLIP	20371350
MIRT525945	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT525957	hsa-miR-6769a-3p	PAR-CLIP	20371350
MIRT525956	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT525955	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT525954	hsa-miR-4257	PAR-CLIP	20371350
MIRT525953	hsa-miR-759	PAR-CLIP	20371350
MIRT525952	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT525949	hsa-miR-6868-5p	PAR-CLIP	20371350
MIRT525948	hsa-miR-5008-5p	PAR-CLIP	20371350
MIRT525947	hsa-miR-298	PAR-CLIP	20371350
MIRT525946	hsa-miR-5699-5p	PAR-CLIP	20371350
MIRT525945	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT525957	hsa-miR-6769a-3p	PAR-CLIP	20371350
MIRT525956	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT525955	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT525954	hsa-miR-4257	PAR-CLIP	20371350
MIRT525953	hsa-miR-759	PAR-CLIP	20371350
MIRT525952	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT525948	hsa-miR-5008-5p	PAR-CLIP	20371350
MIRT525947	hsa-miR-298	PAR-CLIP	20371350
MIRT525946	hsa-miR-5699-5p	PAR-CLIP	20371350
MIRT525945	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT525957	hsa-miR-6769a-3p	PAR-CLIP	22012620
MIRT525956	hsa-miR-5000-5p	PAR-CLIP	22012620
MIRT525955	hsa-miR-6847-5p	PAR-CLIP	22012620
MIRT525954	hsa-miR-4257	PAR-CLIP	22012620
MIRT525953	hsa-miR-759	PAR-CLIP	22012620
MIRT525952	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT525951	hsa-miR-221-5p	PAR-CLIP	22012620
MIRT525950	hsa-miR-8073	PAR-CLIP	22012620
MIRT525949	hsa-miR-6868-5p	PAR-CLIP	22012620
MIRT525948	hsa-miR-5008-5p	PAR-CLIP	22012620
MIRT525947	hsa-miR-298	PAR-CLIP	22012620
MIRT525946	hsa-miR-5699-5p	PAR-CLIP	22012620
MIRT525945	hsa-miR-874-5p	PAR-CLIP	22012620
MIRT1368462	hsa-miR-3148	CLIP-seq
MIRT1368463	hsa-miR-3652	CLIP-seq
MIRT1368464	hsa-miR-433	CLIP-seq
MIRT1368465	hsa-miR-4430	CLIP-seq
MIRT1368466	hsa-miR-4670-3p	CLIP-seq
MIRT1368467	hsa-miR-875-3p	CLIP-seq
MIRT1368468	hsa-miR-371b-3p	CLIP-seq
MIRT1368469	hsa-miR-4266	CLIP-seq
MIRT1368470	hsa-miR-4434	CLIP-seq
MIRT1368471	hsa-miR-4516	CLIP-seq
MIRT1368472	hsa-miR-4753-3p	CLIP-seq
MIRT1368473	hsa-miR-938	CLIP-seq
MIRT1368474	hsa-miR-942	CLIP-seq
MIRT2332626	hsa-miR-1273e	CLIP-seq
MIRT2332627	hsa-miR-1273f	CLIP-seq
MIRT2332628	hsa-miR-3126-5p	CLIP-seq
MIRT2332629	hsa-miR-3149	CLIP-seq
MIRT2332630	hsa-miR-3175	CLIP-seq
MIRT2332631	hsa-miR-3184	CLIP-seq
MIRT2332632	hsa-miR-342-5p	CLIP-seq
MIRT2332633	hsa-miR-345	CLIP-seq
MIRT2332634	hsa-miR-3679-3p	CLIP-seq
MIRT2332635	hsa-miR-3689d	CLIP-seq
MIRT2332636	hsa-miR-3978	CLIP-seq
MIRT2332637	hsa-miR-421	CLIP-seq
MIRT2332638	hsa-miR-423-5p	CLIP-seq
MIRT2332639	hsa-miR-4272	CLIP-seq
MIRT2332640	hsa-miR-4651	CLIP-seq
MIRT2332641	hsa-miR-4659a-3p	CLIP-seq
MIRT2332642	hsa-miR-4659b-3p	CLIP-seq
MIRT2332643	hsa-miR-4664-5p	CLIP-seq
MIRT2332644	hsa-miR-4716-3p	CLIP-seq
MIRT2332645	hsa-miR-4723-5p	CLIP-seq
MIRT2332646	hsa-miR-4775	CLIP-seq
MIRT2332647	hsa-miR-4803	CLIP-seq
MIRT2332648	hsa-miR-583	CLIP-seq
MIRT2332649	hsa-miR-608	CLIP-seq
MIRT2332650	hsa-miR-635	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KCNIP3	Repression	16306395

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0005432	Function	Calcium:sodium antiporter activity	IBA	21873635
GO:0005432	Function	Calcium:sodium antiporter activity	ISS
GO:0005516	Function	Calmodulin binding	IEA
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0006811	Process	Ion transport	TAS
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	ISS
GO:0006874	Process	Cellular calcium ion homeostasis	ISS
GO:0007154	Process	Cell communication	IEA
GO:0007611	Process	Learning or memory	ISS
GO:0007612	Process	Learning	ISS
GO:0007613	Process	Memory	ISS
GO:0014069	Component	Postsynaptic density	ISS
GO:0014819	Process	Regulation of skeletal muscle contraction	ISS
GO:0015491	Function	Cation:cation antiporter activity	IBA	21873635
GO:0016020	Component	Membrane	IBA	21873635
GO:0016528	Component	Sarcoplasm	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0030001	Process	Metal ion transport	IBA	21873635
GO:0030424	Component	Axon	IBA	21873635
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0031226	Component	Intrinsic component of plasma membrane	IDA	21959935
GO:0031594	Component	Neuromuscular junction	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0035725	Process	Sodium ion transmembrane transport	ISS
GO:0042383	Component	Sarcolemma	IBA	21873635
GO:0042383	Component	Sarcolemma	ISS
GO:0042552	Process	Myelination	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0043197	Component	Dendritic spine	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0045202	Component	Synapse	IDA	21382638
GO:0045202	Component	Synapse	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21959935
GO:0048709	Process	Oligodendrocyte differentiation	ISS
GO:0050808	Process	Synapse organization	ISS
GO:0051560	Process	Mitochondrial calcium ion homeostasis	ISS
GO:0060291	Process	Long-term synaptic potentiation	ISS
GO:0070588	Process	Calcium ion transmembrane transport	ISS
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0071901	Process	Negative regulation of protein serine/threonine kinase activity	ISS
GO:0098703	Process	Calcium ion import across plasma membrane	IBA	21873635
GO:0098794	Component	Postsynapse	IBA	21873635
GO:0098815	Process	Modulation of excitatory postsynaptic potential	ISS
GO:0099055	Component	Integral component of postsynaptic membrane	IEA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:0099580	Function	Ion antiporter activity involved in regulation of postsynaptic membrane potential	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:1905060	Function	Calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:1990034	Process	Calcium ion export across plasma membrane	IEA

Other IDs

• MIM: 607991
• HGNC: 11070
• e!Ensembl: ENSG00000100678

Protein

• UniProt ID: P57103
• Protein name: Sodium/calcium exchanger 3 (Na(+)/Ca(2+)-exchange protein 3) (Solute carrier family 8 member 3)
• Protein function: Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01699	Na_Ca_ex	79 → 250	Sodium/calcium exchanger protein	Family
  PF16494	Na_Ca_ex_C	253 → 380	C-terminal extension of sodium/calcium exchanger domain	Family
  PF03160	Calx-beta	385 → 485	Calx-beta domain	Domain
  PF03160	Calx-beta	519 → 619	Calx-beta domain	Domain
  PF01699	Na_Ca_ex	753 → 918	Sodium/calcium exchanger protein	Family

• Sequence:

  MAWLRLQPLTSAFLHFGLVTFVLFLNGLRAEAGGSGDVPSTGQNNESCSGSSDCKEGVIL
  PIWYPENPSLGDKIARVIVYFVALIYMFLGVSIIADRFMASIEVITSQEREVTIKKPNGE
  TSTTTIRVWNETVSNLTLMALGSSAPEILLSLIEVCGHGFIAGDLGPSTIVGSAAFNMFI
  IIGICVYVIPDGETRKIKHLRVFFITAAWSIFAYIWLYMILAVFSPGVVQVWEGLLTLFF
  FPVCVLLAWVADKRLLFYKYMHKKYRTDKHRGIIIETEGDHPKGIEMDGKMMNSHFLDGN
  LVPLEGKEVDESRREMIRILKDLKQKHPEKDLDQLVEMANYYALSHQQKSRAFYRIQATR
  MMTGAGNILKKHAAEQAKKASSMSEVHTDEPEDFISKVFFDPCSYQCLENCGAVLLTVVR
  KGGDMSKTMYVDYKTEDGSANAGADYEFTEGTVVLKPGETQKEFSVGIIDDDIFEEDEHF
  FVRLSNVRIEEEQPEEGMPPAIFNSLPLPRAVLASPCVATVTILDDDHAGIFTFECDTIH
  VSESIGVMEVKVLRTSGARGTVIVPFRTVEGTAKGGGEDFEDTYGELEFKNDETVKTIRV
  KIVDEEEYERQENFFIALGEPKWMERGISALLLSPDVTDRKLTMEEEEAKRIAEMGKPVL
  GEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAAGDEDEDESG
  EERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFG
  CTIGLKDSVTAVVFVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAW
  SVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLA
  TTWLFVSLWLLYILFATLEAYCYIKGF

• Sequence length: 927

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Apelin signaling pathway
Olfactory transduction
Endocrine and other factor-regulated calcium reabsorption
Protein digestion and absorption
Mineral absorption
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Reduction of cytosolic Ca++ levels
Sodium/Calcium exchangers
Ion homeostasis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	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	20888801

Unknown
Disease name	Disease term	dbSNP ID	References
Clonic seizures	Clonic Seizures		20888801
Grand mal status epilepticus	Grand Mal Status Epilepticus		20888801
Hypotonic seizures	Epileptic drop attack		20888801
Jacksonian seizure	Jacksonian Seizure		20888801
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		20888801
Petit mal status	Petit mal status		20888801
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		20888801