CNTN2 (contactin 2)

Gene

• Entrez ID: 6900
• Gene name: Contactin 2
• Gene symbol: CNTN2
• Synonyms: AXT, EPEO5, FAME5, TAG-1, TAX, TAX1
• Chromosome: 1
• Chromosome location: 1q32.1
• Summary: This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migrati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139732336	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs142502980	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs145352110	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs398122387	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1196223064	A>G	Likely-pathogenic	Splice acceptor variant
rs1553345874	G>C	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT901620	hsa-miR-1224-3p	CLIP-seq
MIRT901621	hsa-miR-1236	CLIP-seq
MIRT901622	hsa-miR-1251	CLIP-seq
MIRT901623	hsa-miR-1273d	CLIP-seq
MIRT901624	hsa-miR-148a	CLIP-seq
MIRT901625	hsa-miR-148b	CLIP-seq
MIRT901626	hsa-miR-152	CLIP-seq
MIRT901627	hsa-miR-1912	CLIP-seq
MIRT901628	hsa-miR-1915	CLIP-seq
MIRT901629	hsa-miR-218	CLIP-seq
MIRT901630	hsa-miR-2277-3p	CLIP-seq
MIRT901631	hsa-miR-2392	CLIP-seq
MIRT901632	hsa-miR-2467-3p	CLIP-seq
MIRT901633	hsa-miR-3135	CLIP-seq
MIRT901634	hsa-miR-3136-3p	CLIP-seq
MIRT901635	hsa-miR-3150b-3p	CLIP-seq
MIRT901636	hsa-miR-3174	CLIP-seq
MIRT901637	hsa-miR-3616-5p	CLIP-seq
MIRT901638	hsa-miR-3647-5p	CLIP-seq
MIRT901639	hsa-miR-3664-3p	CLIP-seq
MIRT901640	hsa-miR-3670	CLIP-seq
MIRT901641	hsa-miR-3960	CLIP-seq
MIRT901642	hsa-miR-4267	CLIP-seq
MIRT901643	hsa-miR-4318	CLIP-seq
MIRT901644	hsa-miR-4326	CLIP-seq
MIRT901645	hsa-miR-4420	CLIP-seq
MIRT901646	hsa-miR-4433	CLIP-seq
MIRT901647	hsa-miR-4474-3p	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901649	hsa-miR-4635	CLIP-seq
MIRT901650	hsa-miR-4645-5p	CLIP-seq
MIRT901651	hsa-miR-4653-3p	CLIP-seq
MIRT901652	hsa-miR-4673	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901655	hsa-miR-4697-3p	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT901657	hsa-miR-4726-3p	CLIP-seq
MIRT901658	hsa-miR-4774-3p	CLIP-seq
MIRT901659	hsa-miR-4780	CLIP-seq
MIRT901660	hsa-miR-4784	CLIP-seq
MIRT901661	hsa-miR-512-3p	CLIP-seq
MIRT901662	hsa-miR-542-5p	CLIP-seq
MIRT901663	hsa-miR-573	CLIP-seq
MIRT901664	hsa-miR-873	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT1967452	hsa-miR-1207-5p	CLIP-seq
MIRT901622	hsa-miR-1251	CLIP-seq
MIRT1967453	hsa-miR-1976	CLIP-seq
MIRT1967454	hsa-miR-3192	CLIP-seq
MIRT1967455	hsa-miR-3915	CLIP-seq
MIRT1967456	hsa-miR-3918	CLIP-seq
MIRT1967457	hsa-miR-3928	CLIP-seq
MIRT1967458	hsa-miR-4254	CLIP-seq
MIRT1967459	hsa-miR-4300	CLIP-seq
MIRT1967460	hsa-miR-4308	CLIP-seq
MIRT1967461	hsa-miR-4469	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT1967462	hsa-miR-4529-5p	CLIP-seq
MIRT1967463	hsa-miR-4675	CLIP-seq
MIRT1967464	hsa-miR-4685-5p	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT1967465	hsa-miR-4690-5p	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT1967466	hsa-miR-4722-3p	CLIP-seq
MIRT1967467	hsa-miR-4729	CLIP-seq
MIRT1967468	hsa-miR-4741	CLIP-seq
MIRT1967469	hsa-miR-4763-3p	CLIP-seq
MIRT1967470	hsa-miR-495	CLIP-seq
MIRT1967471	hsa-miR-920	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT2203137	hsa-miR-1205	CLIP-seq
MIRT2203138	hsa-miR-125a-5p	CLIP-seq
MIRT2203139	hsa-miR-125b	CLIP-seq
MIRT2203140	hsa-miR-1266	CLIP-seq
MIRT2203141	hsa-miR-1286	CLIP-seq
MIRT2203142	hsa-miR-1288	CLIP-seq
MIRT2203143	hsa-miR-1291	CLIP-seq
MIRT2203144	hsa-miR-1587	CLIP-seq
MIRT2203145	hsa-miR-216a	CLIP-seq
MIRT2203146	hsa-miR-24	CLIP-seq
MIRT2203147	hsa-miR-3064-5p	CLIP-seq
MIRT2203148	hsa-miR-3117-3p	CLIP-seq
MIRT901633	hsa-miR-3135	CLIP-seq
MIRT2203149	hsa-miR-3155	CLIP-seq
MIRT2203150	hsa-miR-3155b	CLIP-seq
MIRT2203151	hsa-miR-3169	CLIP-seq
MIRT2203152	hsa-miR-328	CLIP-seq
MIRT2203153	hsa-miR-3652	CLIP-seq
MIRT901639	hsa-miR-3664-3p	CLIP-seq
MIRT2203154	hsa-miR-378g	CLIP-seq
MIRT2203155	hsa-miR-4270	CLIP-seq
MIRT2203156	hsa-miR-4283	CLIP-seq
MIRT2203157	hsa-miR-4319	CLIP-seq
MIRT2203158	hsa-miR-4430	CLIP-seq
MIRT2203159	hsa-miR-4437	CLIP-seq
MIRT2203160	hsa-miR-4438	CLIP-seq
MIRT2203161	hsa-miR-4441	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2203163	hsa-miR-4464	CLIP-seq
MIRT2203164	hsa-miR-4489	CLIP-seq
MIRT2203165	hsa-miR-4492	CLIP-seq
MIRT2203166	hsa-miR-4498	CLIP-seq
MIRT2203167	hsa-miR-4505	CLIP-seq
MIRT2203168	hsa-miR-4518	CLIP-seq
MIRT2203169	hsa-miR-4656	CLIP-seq
MIRT1967463	hsa-miR-4675	CLIP-seq
MIRT901653	hsa-miR-4687-3p	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT1967467	hsa-miR-4729	CLIP-seq
MIRT2203170	hsa-miR-4731-5p	CLIP-seq
MIRT1967468	hsa-miR-4741	CLIP-seq
MIRT2203171	hsa-miR-4748	CLIP-seq
MIRT2203172	hsa-miR-4759	CLIP-seq
MIRT2203173	hsa-miR-484	CLIP-seq
MIRT2203174	hsa-miR-485-5p	CLIP-seq
MIRT2203175	hsa-miR-5095	CLIP-seq
MIRT2203176	hsa-miR-513c	CLIP-seq
MIRT2203177	hsa-miR-514b-5p	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq
MIRT2203179	hsa-miR-671-5p	CLIP-seq
MIRT2203180	hsa-miR-762	CLIP-seq
MIRT901664	hsa-miR-873	CLIP-seq
MIRT2386314	hsa-miR-103a	CLIP-seq
MIRT2386315	hsa-miR-107	CLIP-seq
MIRT2386316	hsa-miR-1276	CLIP-seq
MIRT2386317	hsa-miR-1827	CLIP-seq
MIRT2386318	hsa-miR-3157-3p	CLIP-seq
MIRT1967454	hsa-miR-3192	CLIP-seq
MIRT1967459	hsa-miR-4300	CLIP-seq
MIRT2386319	hsa-miR-4311	CLIP-seq
MIRT2386320	hsa-miR-4744	CLIP-seq
MIRT2386321	hsa-miR-583	CLIP-seq
MIRT1967471	hsa-miR-920	CLIP-seq
MIRT2203149	hsa-miR-3155	CLIP-seq
MIRT2203150	hsa-miR-3155b	CLIP-seq
MIRT2447415	hsa-miR-4269	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT2447416	hsa-miR-4742-5p	CLIP-seq
MIRT2203173	hsa-miR-484	CLIP-seq
MIRT2447417	hsa-miR-635	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT901648	hsa-miR-4514	CLIP-seq
MIRT901654	hsa-miR-4692	CLIP-seq
MIRT901656	hsa-miR-4722-5p	CLIP-seq
MIRT2447417	hsa-miR-635	CLIP-seq
MIRT901665	hsa-miR-940	CLIP-seq
MIRT2506147	hsa-miR-4435	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2506148	hsa-miR-4640-5p	CLIP-seq
MIRT2506149	hsa-miR-4726-5p	CLIP-seq
MIRT2506150	hsa-miR-4779	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq
MIRT2506147	hsa-miR-4435	CLIP-seq
MIRT2203162	hsa-miR-4459	CLIP-seq
MIRT2506148	hsa-miR-4640-5p	CLIP-seq
MIRT2506149	hsa-miR-4726-5p	CLIP-seq
MIRT2506150	hsa-miR-4779	CLIP-seq
MIRT2203178	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0007155	Process	Cell adhesion	NAS	8425542
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA	21873635
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0030424	Component	Axon	IBA	21873635
GO:0033268	Component	Node of Ranvier	ISS
GO:0042802	Function	Identical protein binding	TAS	12963709
GO:0043209	Component	Myelin sheath	ISS
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0045163	Process	Clustering of voltage-gated potassium channels	ISS
GO:0045202	Component	Synapse	ISS
GO:0070593	Process	Dendrite self-avoidance	IBA	21873635
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS
GO:0097090	Process	Presynaptic membrane organization	IMP	23518707
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA	21873635
GO:0099025	Component	Anchored component of postsynaptic membrane	IDA	26217189
GO:0099025	Component	Anchored component of postsynaptic membrane	IMP	26217189

Other IDs

• MIM: 190197
• HGNC: 2172
• e!Ensembl: ENSG00000184144

Protein

• UniProt ID: Q02246
• Protein name: Contactin-2 (Axonal glycoprotein TAG-1) (Axonin-1) (Transient axonal glycoprotein 1) (TAX-1)
• Protein function: In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion. {EC
• PDB: 2OM5, 8K3J, 8K53, 9BA4, 9BA5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13927	Ig_3	37 → 115		Domain
  PF13927	Ig_3	238 → 310		Domain
  PF07679	I-set	327 → 412	Immunoglobulin I-set domain	Domain
  PF07679	I-set	421 → 505	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	510 → 591		Domain
  PF00041	fn3	609 → 697	Fibronectin type III domain	Domain
  PF00041	fn3	712 → 800	Fibronectin type III domain	Domain
  PF00041	fn3	814 → 900	Fibronectin type III domain	Domain

• Sequence:

  MGTATRRKPHLLLVAAVALVSSSAWSSALGSQTTFGPVFEDQPLSVLFPEESTEEQVLLA
  CRARASPPATYRWKMNGTEMKLEPGSRHQLVGGNLVIMNPTKAQDAGVYQCLASNPVGTV
  VSREAILRFGFLQEFSKEERDPVKAHEGWGVMLPCNPPAHYPGLSYRWLLNEFPNFIPTD
  GRHFVSQTTGNLYIARTNASDLGNYSCLATSHMDFSTKSVFSKFAQLNLAAEDTRLFAPS
  IKARFPAETYALVGQQVTLECFAFGNPVPRIKWRKVDGSLSPQWTTAEPTLQIPSVSFED
  EGTYECEAENSKGRDTVQGRIIVQAQPEWLKVISDTEADIGSNLRWGCAAAGKPRPTVRW
  LRNGEPLASQNRVEVLAGDLRFSKLSLEDSGMYQCVAENKHGTIYASAELAVQALAPDFR
  LNPVRRLIPAARGGEILIPCQPRAAPKAVVLWSKGTEILVNSSRVTVTPDGTLIIRNISR
  SDEGKYTCFAENFMGKANSTGILSVRDATKITLAPSSADINLGDNLTLQCHASHDPTMDL
  TFTWTLDDFPIDFDKPGGHYRRTNVKETIGDLTILNAQLRHGGKYTCMAQTVVDSASKEA
  TVLVRGPPGPPGGVVVRDIGDTTIQLSWSRGFDNHSPIAKYTLQARTPPAGKWKQVRTNP
  ANIEGNAETAQVLGLTPWMDYEFRVIASNILGTGEPSGPSSKIRTREAAPSVAPSGLSGG
  GGAPGELIVNWTPMSREYQNGDGFGYLLSFRRQGSTHWQTARVPGADAQYFVYSNESVRP
  YTPFEVKIRSYNRRGDGPESLTALVYSAEEEPRVAPTKVWAKGVSSSEMNVTWEPVQQDM
  NGILLGYEIRYWKAGDKEAAADRVRTAGLDTSARVSGLHPNTKYHVTVRAYNRAGTGPAS
  PSANATTMKPPPRRPPGNISWTFSSSSLSIKWDPVVPFRNESAVTGYKMLYQNDLHLTPT
  LHLTGKNWIEIPVPEDIGHALVQIRTTGPGGDGIPAEVHIVRNGGTSMMVENMAVRPAPH
  PGTVISHSVAMLILIGSLEL

• Sequence length: 1040

Pathways

KEGG:

Cell adhesion molecules

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myoclonic epilepsy	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1, EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5	rs267607103, rs267607104, rs137852778, rs137852781, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1581829739, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615	23518707
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764, 30285260
Seizure	Generalized seizures, Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Benign myoclonic epilepsy	Benign adult familial myoclonic epilepsy
Visual auras	Visual auras