CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit)

Gene

• Entrez ID: 1135
• Gene name: Cholinergic receptor nicotinic alpha 2 subunit
• Gene symbol: CHRNA2
• Synonyms (NCBI Gene): -
• Chromosome: 8
• Chromosome location: 8p21.2
• Summary: Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central ner

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74772771	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant
rs76140563	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs77710085	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs104894063	A>T	Pathogenic	Coding sequence variant, missense variant
rs138682847	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs140350483	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141721605	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144185168	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, coding sequence variant, missense variant
rs147530139	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149142237	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs371858399	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1018084204	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554514507	T>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025736	hsa-miR-7-5p	Microarray	17612493
MIRT891683	hsa-miR-105	CLIP-seq
MIRT891684	hsa-miR-1224-3p	CLIP-seq
MIRT891685	hsa-miR-1233	CLIP-seq
MIRT891686	hsa-miR-1260	CLIP-seq
MIRT891687	hsa-miR-1260b	CLIP-seq
MIRT891688	hsa-miR-1280	CLIP-seq
MIRT891689	hsa-miR-129-3p	CLIP-seq
MIRT891690	hsa-miR-1321	CLIP-seq
MIRT891691	hsa-miR-1827	CLIP-seq
MIRT891692	hsa-miR-2115	CLIP-seq
MIRT891693	hsa-miR-218	CLIP-seq
MIRT891694	hsa-miR-2467-5p	CLIP-seq
MIRT891695	hsa-miR-3127-3p	CLIP-seq
MIRT891696	hsa-miR-3161	CLIP-seq
MIRT891697	hsa-miR-3179	CLIP-seq
MIRT891698	hsa-miR-3180-5p	CLIP-seq
MIRT891699	hsa-miR-3194-3p	CLIP-seq
MIRT891700	hsa-miR-338-5p	CLIP-seq
MIRT891701	hsa-miR-3622a-3p	CLIP-seq
MIRT891702	hsa-miR-3622b-3p	CLIP-seq
MIRT891703	hsa-miR-3929	CLIP-seq
MIRT891704	hsa-miR-4419a	CLIP-seq
MIRT891705	hsa-miR-4419b	CLIP-seq
MIRT891706	hsa-miR-4475	CLIP-seq
MIRT891707	hsa-miR-4478	CLIP-seq
MIRT891708	hsa-miR-4510	CLIP-seq
MIRT891709	hsa-miR-4690-3p	CLIP-seq
MIRT891710	hsa-miR-4690-5p	CLIP-seq
MIRT891711	hsa-miR-4691-5p	CLIP-seq
MIRT891712	hsa-miR-4727-5p	CLIP-seq
MIRT891713	hsa-miR-4728-5p	CLIP-seq
MIRT891714	hsa-miR-4739	CLIP-seq
MIRT891715	hsa-miR-4756-5p	CLIP-seq
MIRT891716	hsa-miR-4769-3p	CLIP-seq
MIRT891717	hsa-miR-4779	CLIP-seq
MIRT891718	hsa-miR-515-5p	CLIP-seq
MIRT891719	hsa-miR-516a-3p	CLIP-seq
MIRT891720	hsa-miR-520a-5p	CLIP-seq
MIRT891721	hsa-miR-525-5p	CLIP-seq
MIRT891722	hsa-miR-532-3p	CLIP-seq
MIRT891723	hsa-miR-636	CLIP-seq
MIRT891724	hsa-miR-940	CLIP-seq
MIRT1546433	hsa-miR-1343	CLIP-seq
MIRT891684	hsa-miR-1224-3p	CLIP-seq
MIRT891686	hsa-miR-1260	CLIP-seq
MIRT891687	hsa-miR-1260b	CLIP-seq
MIRT891688	hsa-miR-1280	CLIP-seq
MIRT891690	hsa-miR-1321	CLIP-seq
MIRT1964281	hsa-miR-331-3p	CLIP-seq
MIRT891701	hsa-miR-3622a-3p	CLIP-seq
MIRT891702	hsa-miR-3622b-3p	CLIP-seq
MIRT1964282	hsa-miR-4286	CLIP-seq
MIRT891704	hsa-miR-4419a	CLIP-seq
MIRT891708	hsa-miR-4510	CLIP-seq
MIRT1964283	hsa-miR-4651	CLIP-seq
MIRT891713	hsa-miR-4728-5p	CLIP-seq
MIRT1964284	hsa-miR-4731-5p	CLIP-seq
MIRT891714	hsa-miR-4739	CLIP-seq
MIRT891715	hsa-miR-4756-5p	CLIP-seq
MIRT891718	hsa-miR-515-5p	CLIP-seq
MIRT891722	hsa-miR-532-3p	CLIP-seq
MIRT1964285	hsa-miR-608	CLIP-seq
MIRT1964286	hsa-miR-637	CLIP-seq
MIRT2200386	hsa-miR-1207-5p	CLIP-seq
MIRT1546433	hsa-miR-1343	CLIP-seq
MIRT891691	hsa-miR-1827	CLIP-seq
MIRT2200387	hsa-miR-2861	CLIP-seq
MIRT2200388	hsa-miR-3150a-3p	CLIP-seq
MIRT2200389	hsa-miR-3173-3p	CLIP-seq
MIRT2200390	hsa-miR-3175	CLIP-seq
MIRT891701	hsa-miR-3622a-3p	CLIP-seq
MIRT891702	hsa-miR-3622b-3p	CLIP-seq
MIRT2200391	hsa-miR-3622b-5p	CLIP-seq
MIRT2200392	hsa-miR-3918	CLIP-seq
MIRT2200393	hsa-miR-4316	CLIP-seq
MIRT2200394	hsa-miR-4512	CLIP-seq
MIRT2200395	hsa-miR-4533	CLIP-seq
MIRT2200396	hsa-miR-4640-5p	CLIP-seq
MIRT1964283	hsa-miR-4651	CLIP-seq
MIRT2200397	hsa-miR-4667-5p	CLIP-seq
MIRT2200398	hsa-miR-4700-5p	CLIP-seq
MIRT2200399	hsa-miR-4726-5p	CLIP-seq
MIRT891713	hsa-miR-4728-5p	CLIP-seq
MIRT2200400	hsa-miR-4736	CLIP-seq
MIRT2200401	hsa-miR-4747-5p	CLIP-seq
MIRT2200402	hsa-miR-4763-3p	CLIP-seq
MIRT891718	hsa-miR-515-5p	CLIP-seq
MIRT1964285	hsa-miR-608	CLIP-seq
MIRT2200403	hsa-miR-661	CLIP-seq
MIRT2200404	hsa-miR-939	CLIP-seq
MIRT891684	hsa-miR-1224-3p	CLIP-seq
MIRT891686	hsa-miR-1260	CLIP-seq
MIRT891687	hsa-miR-1260b	CLIP-seq
MIRT891688	hsa-miR-1280	CLIP-seq
MIRT891701	hsa-miR-3622a-3p	CLIP-seq
MIRT891702	hsa-miR-3622b-3p	CLIP-seq
MIRT891718	hsa-miR-515-5p	CLIP-seq
MIRT891722	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617, 24467848
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	8906617
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0015464	Function	Acetylcholine receptor activity	IDA	8906617
GO:0015464	Function	Acetylcholine receptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8906617
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	8906617
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IDA	24467848
GO:0035094	Process	Response to nicotine	IBA
GO:0043005	Component	Neuron projection	IBA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0050997	Function	Quaternary ammonium group binding	IEA
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0071316	Process	Cellular response to nicotine	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0097060	Component	Synaptic membrane	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098828	Process	Modulation of inhibitory postsynaptic potential	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	24467848
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:0120111	Component	Neuron projection cytoplasm	IEA
GO:1901363	Function	Heterocyclic compound binding	IEA
GO:1905144	Process	Response to acetylcholine	IEA

Other IDs

• MIM: 118502
• HGNC: 1956
• e!Ensembl: ENSG00000120903

Protein

• UniProt ID: Q15822
• Protein name: Neuronal acetylcholine receptor subunit alpha-2 (Nicotinic acetylcholine receptor subunit alpha-2)
• Protein function: Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nA
• PDB: 5FJV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	59 → 265	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	272 → 520	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MGPSCPVFLSFTKLSLWWLLLTPAGGEEAKRPPPRAPGDPLSSPSPTALPQGGSHTETED
  RLFKHLFRGYNRWARPVPNTSDVVIVRFGLSIAQLIDVDEKNQMMTTNVWLKQEWSDYKL
  RWNPTDFGNITSLRVPSEMIWIPDIVLYNNADGEFAVTHMTKAHLFSTGTVHWVPPAIYK
  SSCSIDVTFFPFDQQNCKMKFGSWTYDKAKIDLEQMEQTVDLKDYWESGEWAIVNATGTY
  NSKKYDCCAEIYPDVTYAFVIRRLPLFYTINLIIPCLLISCLTVLVFYLPSDCGEKITLC
  ISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPSTH
  TMPHWVRGALLGCVPRWLLMNRPPPPVELCHPLRLKLSPSYHWLESNVDAEEREVVVEEE
  DRWACAGHVAPSVGTLCSHGHLHSGASGPKAEALLQEGELLLSPHMQKALEGVHYIADHL
  RSEDADSSVKEDWKYVAMVIDRIFLWLFIIVCFLGTIGLFLPPFLAGMI

• Sequence length: 529

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal dominant nocturnal frontal lobe epilepsy 4	Pathogenic	rs104894063, rs1554514507	RCV000019056 RCV000625720

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal dominant nocturnal frontal lobe epilepsy	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs1563315936, rs1812553075, rs138721954, rs1179640861, rs774054592, rs1332347946, rs1812601639, rs769273715, rs772750196, rs1812797993, rs1812814993, rs199810678, rs548268816, rs1812823861, rs1812863482, rs370964466, rs753568467, rs770305730, rs1812618871, rs752422797, rs771977388, rs2132646191, rs1812587015, rs775662796, rs745958182, rs759538013, rs1812554029, rs373599393, rs150333280, rs2132651658, rs1484589569, rs779790900, rs1427091098, rs373912586, rs2132651160, rs908715626, rs779197511, rs1812607837, rs2132661449, rs752689106, rs749942986, rs765154757, rs756635424, rs2132650571, rs1812566372, rs1202844498, rs2132652883, rs2132654000, rs1247001566, rs777692776, rs561008438, rs1812818583, rs2132646413, rs1270908053, rs2132650965, rs1175481996, rs767782606, rs56189058, rs1812610117, rs1812595253, rs771693410, rs2132665924, rs377612702, rs367914235, rs1812490479, rs141721605, rs56298562, rs2565061, rs891398, rs2472553, rs56229264, rs114294066, rs754567543, rs758255768, rs564532686, rs1812615728, rs758688566, rs748755253, rs2132661149, rs762406891, rs774279507, rs968676056, rs200035862, rs750130500, rs1812498557, rs373046238, rs202012980, rs535699325, rs554976506, rs56344740, rs2132665999, rs370425843, rs757376257, rs1586386548, rs373358886, rs758793756, rs772765800, rs1039488837, rs2132651723, rs2132651430, rs2132651312, rs777304017, rs758065946, rs1428288320, rs1328911807, rs1262745996, rs377660408, rs2132654123, rs775592017, rs1563319049, rs2132654151, rs2132650884, rs2132652617, rs1255648133, rs1812814759, rs757700781, rs2132653296, rs1812825772, rs748345482, rs755338508, rs963988264, rs2132666061, rs2132653089, rs140118184, rs1040149262, rs2132666877, rs770447351, rs2132670415, rs1242888452, rs2132666030, rs2132650909, rs1278613957, rs1372280583, rs1812824307, rs769975305, rs2132652084, rs780056270, rs757169328, rs139680977, rs151068685, rs770131239, rs1812608078, rs749496919, rs1812812900, rs1226134787, rs749199596, rs1299700179, rs1391683489, rs1182551223, rs1259563937, rs76140563, rs148009259, rs756175616, rs759595350, rs2490536114, rs1812615256, rs1563318438, rs752321195, rs368477570, rs781333878, rs975875474, rs746835048, rs2490575533, rs2490543659, rs757567429, rs2490575712, rs368211446, rs775319340, rs866577498, rs138682847, rs760940111, rs769608818, rs1812563867, rs1321895505, rs2490535647, rs770447673, rs771282047, rs2490571780, rs2490534291, rs755545432, rs772244275, rs542738759, rs944982830, rs145238683, rs796052306, rs143223159, rs760166123, rs796052305, rs796052304, rs751242542, rs544902151, rs771994243, rs796052303, rs796052302, rs746613509, rs74341575, rs368791756, rs750301958, rs147530139, rs796052309, rs77710085, rs146751925, rs140350483, rs780491416, rs796052299, rs766076722, rs758217117, rs796052297, rs773956983, rs150112824, rs541282922, rs1554515367, rs369707163, rs149615415, rs762847144, rs201922955, rs376970816, rs568479156, rs151268950, rs146763552, rs74772771, rs796052307, rs796052310, rs745670660, rs796052294, rs2490534737, rs1216454301, rs1304014761, rs2490539784, rs201890355, rs1192897019, rs2490524287, rs546670055, rs2490581911, rs767104640, rs1354748998, rs1315437464, rs2490558470, rs370878600, rs2490559088, rs1039458194, rs766863642, rs2490536257, rs2490576235, rs1812553662, rs777491869, rs1812559230, rs2490541829, rs142375828, rs762282272, rs762408022, rs1812727752, rs2490524234, rs1242565450, rs529695608, rs2490543448, rs2490543057, rs2490559141, rs765201434, rs78561863, rs2490534766, rs2132652645, rs1586389492, rs2490532856, rs2490559552, rs1480856577, rs2490576099, rs1812595896, rs1405035752, rs2490539365, rs1384290188, rs144185168, rs886044444, rs768151492, rs747073463, rs2490532983, rs2490541483, rs1417798656, rs2490558649, rs755757952, rs766634989, rs2490542899, rs377524925, rs775960558, rs776152904, rs767656036, rs2490536007, rs143360318, rs530383631, rs764360561, rs1812725486, rs1812589086, rs765805084, rs2490558926, rs768575325, rs2490581672, rs1384785847, rs2490538097, rs778838030, rs1271677937, rs754810220, rs2490533505, rs367771198, rs2132667563, rs763337219, rs1439824149, rs2490571751, rs751049729, rs375095234, rs1812728617, rs1812609243, rs2490576898, rs749670139, rs2490558684, rs994299183, rs2490542380, rs745364666, rs751699392, rs746630071, rs149934219, rs141662252, rs868127322, rs776191995, rs2490544249, rs1378630657, rs1191450703, rs1463428956, rs1169627389, rs2490558541, rs1812498789, rs149142237, rs145730990, rs374195332, rs2490544404, rs762812430, rs1812608693, rs369803320, rs746274421, rs1171278921, rs748560508, rs775714882, rs1057524196, rs143536618, rs748420222, rs201244136, rs374849310, rs560790452, rs761237311, rs144316375, rs758848783, rs149464248, rs368584036, rs200729883, rs377015162, rs772465304, rs1057522280, rs748482434, rs767619637, rs371737919, rs1057522016, rs1060503072, rs765948265, rs1060503073, rs1060504822, rs544939077, rs199993564, rs755631456, rs767138285, rs1064795452, rs761054762, rs888935641, rs1064793314, rs1064795580, rs913563840, rs1064795899, rs1064796550, rs1064797343, rs774398407, rs371858399, rs776047724, rs567044128, rs763426344, rs747909980, rs200372256, rs781326114, rs56371471, rs768590131, rs778279138, rs1313467019, rs1554514518, rs1554514597, rs1468008473, rs1040135347, rs764346961, rs200277900, rs370957296, rs77769511, rs1370162616, rs1397983639, rs1018084204, rs374512926, rs137965290, rs750588205, rs746292157, rs1473197891, rs1012797739, rs1357751027, rs892421066, rs1554514530, rs933808461, rs775595773, rs1394301488, rs1563319139, rs528528743, rs1279319311, rs757019076, rs1563318247, rs141072985, rs745774113, rs1563319114, rs777391476, rs1346753064, rs866092045, rs150254933, rs760884840, rs762003141, rs778197366, rs188098799, rs1586389806, rs1233767222, rs1586390822, rs763633128, rs544814869, rs1050947622, rs1488678087, rs192887571, rs1341647863, rs761493925, rs764887214, rs1026442070, rs775578495, rs1319128623, rs201944711, rs144913811, rs1586389358, rs1586388697, rs756903177, rs976672656, rs764830161, rs1586391704, rs777412930, rs1586395599, rs369806823, rs768490793, rs780941610, rs139552324, rs753892989, rs1812560444, rs1360369489, rs749494357, rs888244000, rs56339365, rs1586390027, rs755014350, rs139727115, rs201551533, rs1812618288, rs748032811, rs903870658, rs1812820756, rs1812823370, rs538453326, rs1812864886, rs375469296, rs1812619727, rs376807512, rs765772636, rs375239013, rs1586388485, rs1812569409, rs759930402, rs1165713402, rs1418872943, rs770949841, rs1812493442, rs747493891, rs756730967, rs777510962, rs1812571543, rs777177252, rs1812608825, rs1307812125, rs773515773, rs1464665549, rs183676062, rs376045534, rs1812818035	RCV001327370 RCV001317897 RCV001324315 RCV001317273 RCV001327224 RCV001327221 RCV001315905 RCV001323362 RCV001321955 RCV001315943 RCV001324058 RCV001318190 RCV001315177 RCV001319750 RCV001322488 RCV001348024 RCV001340032 RCV001350326 RCV001348881 RCV001339989 RCV001351931 RCV001366495 RCV001364841 RCV001360006 RCV001358821 RCV001359660 RCV001393935 RCV001408283 RCV001396565 RCV001399080 RCV001413758 RCV001401977 RCV001396036 RCV001425547 RCV001447705 RCV001421143 RCV001447307 RCV001433906 RCV001423393 RCV001458499 RCV001467708 RCV001456546 RCV001468313 RCV001468263 RCV001469632 RCV001475988 RCV001467729 RCV001468648 RCV001452684 RCV001477852 RCV001467383 RCV001475242 RCV001487798 RCV001483517 RCV001478978 RCV001506368 RCV001491040 RCV001497912 RCV001488731 RCV003746593 RCV001866200 RCV003772041 RCV002074022 RCV002540582 RCV001898506 RCV001079224 RCV000230291 RCV001510318 RCV001510317 RCV001510319 RCV000460445 RCV000476525 RCV001965301 RCV001966241 RCV002046140 RCV001923398 RCV001953211 RCV002023193 RCV001979162 RCV002031419 RCV001907546 RCV001940512 RCV001969523 RCV001902381 RCV002010234 RCV002055462 RCV002055463 RCV000654329 RCV001518255 RCV001080927 RCV001940928 RCV001903025 RCV001957476 RCV001975443 RCV001998463 RCV001999571 RCV001999572 RCV001891759 RCV002011600 RCV002018077 RCV001870031 RCV001979574 RCV002032955 RCV002037987 RCV001936508 RCV001938724 RCV002016728 RCV001909186 RCV002051359 RCV001890054 RCV002030453 RCV002039312 RCV002048318 RCV001967568 RCV002003597 RCV002042068 RCV002026993 RCV001983254 RCV001977287 RCV001969445 RCV002049482 RCV001892429 RCV002012552 RCV002131277 RCV002210765 RCV002166787 RCV002148094 RCV002138751 RCV002198260 RCV002138046 RCV002102784 RCV002148758 RCV002217125 RCV002175587 RCV002189847 RCV002181393 RCV002107254 RCV002178957 RCV002184870 RCV002209796 RCV002132341 RCV002136988 RCV002131454 RCV002120978 RCV002120979 RCV002138463 RCV002089567 RCV003746612 RCV005096022 RCV003101679 RCV002301571 RCV002294821 RCV001086845 RCV001403709 RCV002299709 RCV002295004 RCV003099266 RCV003102711 RCV005058550 RCV003066598 RCV003081314 RCV003081203 RCV003083408 RCV002610622 RCV002595962 RCV002620402 RCV002615363 RCV001499940 RCV002650919 RCV002651174 RCV001852183 RCV003112003 RCV003107302 RCV001080185 RCV003118437 RCV001413934 RCV002587130 RCV002601648 RCV002613501 RCV002594523 RCV002613920 RCV002609321 RCV002657978 RCV002666927 RCV002695663 RCV002690965 RCV002701406 RCV000691513 RCV002516981 RCV000654341 RCV001857605 RCV000548543 RCV001302695 RCV001360979 RCV000862145 RCV002054192 RCV001302866 RCV001306819 RCV001852441 RCV000702455 RCV001325935 RCV002513981 RCV001519128 RCV003765164 RCV001081783 RCV000654352 RCV001083935 RCV001339600 RCV003765163 RCV001351596 RCV000654317 RCV001857604 RCV003583152 RCV001068668 RCV001432768 RCV002054191 RCV002042803 RCV002054190 RCV001323890 RCV001365920 RCV001370927 RCV000693208 RCV001373739 RCV000654298 RCV000526794 RCV001314805 RCV001079768 RCV000694366 RCV003765165 RCV000793857 RCV003746502 RCV002741295 RCV002750764 RCV002726595 RCV002730295 RCV002785579 RCV002750909 RCV002801587 RCV002837490 RCV002810381 RCV002828366 RCV002838964 RCV002846359 RCV002870873 RCV002843980 RCV002851661 RCV002852023 RCV002893859 RCV002894570 RCV002928685 RCV002909699 RCV002904101 RCV002904580 RCV002952642 RCV002943208 RCV002974953 RCV002971090 RCV002975575 RCV002943996 RCV002982554 RCV002983118 RCV002995867 RCV002996308 RCV003010151 RCV003018578 RCV003012143 RCV003025633 RCV003024018 RCV003027072 RCV003022438 RCV003023827 RCV003026915 RCV003055430 RCV003065876 RCV003062039 RCV003056313 RCV003058138 RCV003746664 RCV005102465 RCV001086367 RCV001486454 RCV003779239 RCV003583269 RCV003583241 RCV003583266 RCV003583306 RCV003583232 RCV003583434 RCV003583405 RCV003583442 RCV003583443 RCV003583594 RCV003583464 RCV003583702 RCV003583661 RCV003583725 RCV003583623 RCV003583888 RCV003583895 RCV003583995 RCV003583948 RCV003583989 RCV003746716 RCV003746748 RCV003746761 RCV003746775 RCV003746816 RCV003746826 RCV003746861 RCV003746796 RCV003746834 RCV003746880 RCV003746921 RCV003747039 RCV003746959 RCV003747020 RCV003747057 RCV003747241 RCV003747244 RCV003747325 RCV003747380 RCV003747436 RCV003746056 RCV003746082 RCV003747397 RCV003746051 RCV003746252 RCV003746168 RCV003746240 RCV003746241 RCV003746289 RCV003746334 RCV000535541 RCV001426423 RCV000470715 RCV003746392 RCV003746422 RCV003746455 RCV003746456 RCV003746476 RCV003747567 RCV003747579 RCV003747590 RCV003747610 RCV003747647 RCV001079388 RCV003811961 RCV003819215 RCV002523673 RCV003847769 RCV003850005 RCV003863952 RCV003867969 RCV003862007 RCV003855104 RCV003860557 RCV001209159 RCV001359208 RCV000458723 RCV005090766 RCV000861518 RCV000869702 RCV002521715 RCV001472372 RCV000865217 RCV000654339 RCV000944129 RCV001518636 RCV003746517 RCV001406823 RCV002062342 RCV001349591 RCV002525401 RCV001495677 RCV000654360 RCV001038713 RCV001407687 RCV003114553 RCV000477538 RCV001434451 RCV000459969 RCV000462809 RCV002063685 RCV001442536 RCV001856862 RCV001061676 RCV001037280 RCV001237817 RCV001341509 RCV003746524 RCV001851224 RCV002526616 RCV000654313 RCV001856864 RCV005056053 RCV005090977 RCV001865503 RCV001853633 RCV001088970 RCV000552003 RCV000551354 RCV000536600 RCV000538601 RCV000528293 RCV000531251 RCV000542462 RCV000560379 RCV000552962 RCV000532312 RCV000541830 RCV000557224 RCV005091549 RCV003746550 RCV005091578 RCV001428173 RCV000654351 RCV001318740 RCV002529437 RCV002065240 RCV002531157 RCV002532784 RCV001209557 RCV000654307 RCV000654318 RCV000654325 RCV000654302 RCV000654350 RCV000654300 RCV000654327 RCV000654345 RCV000654335 RCV000654301 RCV000654304 RCV000654319 RCV000654353 RCV000798125 RCV000694098 RCV000695191 RCV000704190 RCV000697757 RCV000688557 RCV000699708 RCV000701345 RCV000686100 RCV000693581 RCV001488775 RCV003768122 RCV002533014 RCV002534973 RCV001436291 RCV001313435 RCV001456346 RCV000803841 RCV001855995 RCV000815217 RCV000800246 RCV000794562 RCV000804390 RCV000811419 RCV000792378 RCV000815443 RCV000796102 RCV000814342 RCV000797667 RCV000810335 RCV000814566 RCV000808469 RCV000801169 RCV000816028 RCV000796508 RCV000796229 RCV000812400 RCV000811257 RCV001079094 RCV001465765 RCV000862400 RCV001501289 RCV000866973 RCV000868540 RCV001395739 RCV001443014 RCV000954006 RCV001468830 RCV000923206 RCV000927230 RCV001443128 RCV001469342 RCV001491027 RCV001436387 RCV000978952 RCV001395003 RCV000977974 RCV001502839 RCV001204148 RCV001465274 RCV003746572 RCV001042709 RCV001066052 RCV001049200 RCV001063858 RCV001064374 RCV001047695 RCV001043966 RCV001072020 RCV001046276 RCV001060622 RCV001041371 RCV001042247 RCV001056418 RCV001066698 RCV001035969 RCV001069723 RCV001055685 RCV001051016 RCV001070100 RCV001064669 RCV001037279 RCV001063436 RCV001067116 RCV001306424 RCV002032511 RCV003583193 RCV002558506 RCV003746584 RCV001863114 RCV001222903 RCV001218279 RCV001219524 RCV001224109 RCV001218765 RCV001206105 RCV001203183 RCV001208620 RCV001211601 RCV001205709 RCV001236526 RCV001234180 RCV001236296 RCV001230812 RCV001244362 RCV001241183 RCV001303600 RCV001303032 RCV001302185 RCV001304378 RCV001306757 RCV001295750 RCV001308972 RCV001295042
Benign familial infantile epilepsy	Uncertain significance	rs2490532967	RCV005356457
CHRNA2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs1812566372, rs564532686, rs56344740, rs1328911807, rs143223159, rs77710085, rs146751925, rs140350483, rs150112824, rs541282922, rs759595350, rs376970816, rs796052307, rs2490558541, rs1812494361, rs374849310, rs144316375, rs149464248, rs140118184, rs200277900, rs201922955, rs144913811	RCV003965939 RCV003403654 RCV003905194 RCV004743664 RCV003937659 RCV003967466 RCV003947564 RCV003947563 RCV003977492 RCV003937658 RCV003416114 RCV003955121 RCV003947565 RCV004723458 RCV003931491 RCV003972571 RCV003912611 RCV003970224 RCV003902548 RCV003900369 RCV003965590 RCV003903253
Familial sleep-related hypermotor epilepsy	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs139680977, rs150699126, rs1554517018, rs886062854, rs139814974, rs199764226, rs796623573, rs3138834, rs151214233, rs1554517016, rs570954015, rs146191907	RCV000361630 RCV000389425 RCV000341532 RCV000279395 RCV000309888 RCV000301535 RCV000292264 RCV000330017 RCV000397970 RCV000279586 RCV000338120 RCV000340145 RCV000400528 RCV000336061 RCV000391519
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	rs775714882, rs145238683	RCV000416498 RCV001251718
Myoclonic epilepsy	Conflicting classifications of pathogenicity	rs376970816	RCV000678788
Sarcoma	Benign	rs111661898	RCV005899367
Seizure	Conflicting classifications of pathogenicity	rs775714882	RCV000416498
Seizures, benign familial infantile, 6	Conflicting classifications of pathogenicity	rs1018084204	RCV000625719

Associations from Text Mining
Disease Name	Relationship Type	References
Autistic Disorder	Associate	39596607
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Associate	17900292, 25770198, 25847220
Carcinoma Mucoepidermoid	Associate	25823930
Cardiovascular Diseases	Associate	34040693
Epilepsies Partial	Associate	16826524
Epilepsy	Associate	25847220, 37095367
Epilepsy Frontal Lobe	Associate	25770198
Epilepsy Nocturnal Frontal Lobe Type 1	Associate	25847220
Epileptic Syndromes	Associate	16826524
Lung Neoplasms	Associate	29924316
Nocturnal Paroxysmal Dystonia	Associate	16826524
Seizures	Associate	25847220
Seizures Febrile	Associate	39596607
Substance Related Disorders	Associate	18384978