GJA5 (gap junction protein alpha 5)

Gene

• Entrez ID: 2702
• Gene name: Gap junction protein alpha 5
• Gene symbol: GJA5
• Synonyms (NCBI Gene): ATFB11, CX40
• Disease Acronyms (UniProt): ATFB11
• Chromosome: 1
• Chromosome location: 1q21.2
• Summary: This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Muta

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028999	hsa-miR-26b-5p	Microarray	19088304
MIRT496949	hsa-miR-6760-5p	PAR-CLIP	22291592
MIRT496948	hsa-miR-889-5p	PAR-CLIP	22291592
MIRT496947	hsa-miR-6776-5p	PAR-CLIP	22291592
MIRT496946	hsa-miR-5589-5p	PAR-CLIP	22291592
MIRT496945	hsa-miR-3652	PAR-CLIP	22291592
MIRT496944	hsa-miR-4430	PAR-CLIP	22291592
MIRT496943	hsa-miR-4505	PAR-CLIP	22291592
MIRT496942	hsa-miR-5787	PAR-CLIP	22291592
MIRT496941	hsa-miR-6842-3p	PAR-CLIP	22291592
MIRT496940	hsa-miR-1262	PAR-CLIP	22291592
MIRT496939	hsa-miR-4701-3p	PAR-CLIP	22291592
MIRT496938	hsa-miR-6736-5p	PAR-CLIP	22291592
MIRT496949	hsa-miR-6760-5p	PAR-CLIP	22291592
MIRT496948	hsa-miR-889-5p	PAR-CLIP	22291592
MIRT496947	hsa-miR-6776-5p	PAR-CLIP	22291592
MIRT496946	hsa-miR-5589-5p	PAR-CLIP	22291592
MIRT496945	hsa-miR-3652	PAR-CLIP	22291592
MIRT496944	hsa-miR-4430	PAR-CLIP	22291592
MIRT496943	hsa-miR-4505	PAR-CLIP	22291592
MIRT496942	hsa-miR-5787	PAR-CLIP	22291592
MIRT496941	hsa-miR-6842-3p	PAR-CLIP	22291592
MIRT496940	hsa-miR-1262	PAR-CLIP	22291592
MIRT496939	hsa-miR-4701-3p	PAR-CLIP	22291592
MIRT496938	hsa-miR-6736-5p	PAR-CLIP	22291592
MIRT1019719	hsa-miR-1205	CLIP-seq
MIRT1019720	hsa-miR-1909	CLIP-seq
MIRT1019721	hsa-miR-28-5p	CLIP-seq
MIRT1019722	hsa-miR-3139	CLIP-seq
MIRT1019723	hsa-miR-3150b-3p	CLIP-seq
MIRT1019724	hsa-miR-3607-3p	CLIP-seq
MIRT1019725	hsa-miR-4434	CLIP-seq
MIRT1019726	hsa-miR-4516	CLIP-seq
MIRT1019727	hsa-miR-4781-3p	CLIP-seq
MIRT1019728	hsa-miR-4784	CLIP-seq
MIRT1019729	hsa-miR-4786-3p	CLIP-seq
MIRT1019730	hsa-miR-542-3p	CLIP-seq
MIRT1019731	hsa-miR-558	CLIP-seq
MIRT1019732	hsa-miR-708	CLIP-seq
MIRT1019733	hsa-miR-765	CLIP-seq
MIRT2001972	hsa-miR-4768-5p	CLIP-seq
MIRT2235014	hsa-miR-3127-5p	CLIP-seq
MIRT2235015	hsa-miR-4270	CLIP-seq
MIRT2235016	hsa-miR-4441	CLIP-seq
MIRT2450287	hsa-miR-2467-5p	CLIP-seq
MIRT2450288	hsa-miR-3188	CLIP-seq
MIRT2450289	hsa-miR-320a	CLIP-seq
MIRT2450290	hsa-miR-320b	CLIP-seq
MIRT2450291	hsa-miR-320c	CLIP-seq
MIRT2450292	hsa-miR-320d	CLIP-seq
MIRT2450293	hsa-miR-3910	CLIP-seq
MIRT2450294	hsa-miR-3975	CLIP-seq
MIRT2450295	hsa-miR-4429	CLIP-seq
MIRT2450296	hsa-miR-4649-3p	CLIP-seq
MIRT2450297	hsa-miR-485-5p	CLIP-seq
MIRT2538857	hsa-miR-1252	CLIP-seq
MIRT2538858	hsa-miR-298	CLIP-seq
MIRT2538859	hsa-miR-3177-5p	CLIP-seq
MIRT2538860	hsa-miR-4438	CLIP-seq
MIRT2681576	hsa-miR-1202	CLIP-seq
MIRT2538857	hsa-miR-1252	CLIP-seq
MIRT2538858	hsa-miR-298	CLIP-seq
MIRT2681577	hsa-miR-3151	CLIP-seq
MIRT2538859	hsa-miR-3177-5p	CLIP-seq
MIRT2681578	hsa-miR-3183	CLIP-seq
MIRT2450293	hsa-miR-3910	CLIP-seq
MIRT2681579	hsa-miR-3972	CLIP-seq
MIRT2681580	hsa-miR-4257	CLIP-seq
MIRT2538860	hsa-miR-4438	CLIP-seq
MIRT2681581	hsa-miR-4684-3p	CLIP-seq
MIRT2681582	hsa-miR-4723-3p	CLIP-seq
MIRT2681583	hsa-miR-4733-5p	CLIP-seq
MIRT2681584	hsa-miR-4761-5p	CLIP-seq
MIRT2681585	hsa-miR-4776-3p	CLIP-seq
MIRT2681586	hsa-miR-486-3p	CLIP-seq
MIRT2681587	hsa-miR-499-3p	CLIP-seq
MIRT2681588	hsa-miR-499a-3p	CLIP-seq
MIRT2681589	hsa-miR-550b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TBX5	Activation	18451335

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEP	11866539
GO:0003105	Process	Negative regulation of glomerular filtration	IEA
GO:0003151	Process	Outflow tract morphogenesis	IMP	22199024
GO:0003158	Process	Endothelium development	IEA
GO:0003174	Process	Mitral valve development	IMP	22199024
GO:0003193	Process	Pulmonary valve formation	IMP	22199024
GO:0003281	Process	Ventricular septum development	IMP	22199024
GO:0003283	Process	Atrial septum development	IMP	22199024
GO:0005243	Function	Gap junction channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005887	Component	Integral component of plasma membrane	IDA	22247482
GO:0005921	Component	Gap junction	IDA	23348765
GO:0005922	Component	Connexin complex	IBA	21873635
GO:0005922	Component	Connexin complex	IDA	22247482
GO:0005922	Component	Connexin complex	ISS	15044680
GO:0006813	Process	Potassium ion transport	IEA
GO:0007267	Process	Cell-cell signaling	IBA	21873635
GO:0010643	Process	Cell communication by chemical coupling	IEA
GO:0010649	Process	Regulation of cell communication by electrical coupling	IEA
GO:0010652	Process	Positive regulation of cell communication by chemical coupling	IEA
GO:0014704	Component	Intercalated disc	IDA	16790700
GO:0014704	Component	Intercalated disc	TAS	23348765
GO:0016264	Process	Gap junction assembly	IDA	22247482
GO:0016264	Process	Gap junction assembly	IMP	16790700, 23348765
GO:0042995	Component	Cell projection	IEA
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0048844	Process	Artery morphogenesis	ISS
GO:0055077	Function	Gap junction hemi-channel activity	IDA	23348765
GO:0055085	Process	Transmembrane transport	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	16790700, 22247482, 23348765
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IMP	22247482, 23348765
GO:0071253	Function	Connexin binding	IEA
GO:0086020	Function	Gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling	NAS	15044680, 21357845
GO:0086021	Process	SA node cell to atrial cardiac muscle cell communication by electrical coupling	NAS	15044680, 21357845
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	IMP	16790700, 20606116, 23348765
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	NAS	15044680
GO:0086053	Process	AV node cell to bundle of His cell communication by electrical coupling	IMP	22247482
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	IMP	22247482
GO:0086055	Process	Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling	NAS	15044680
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	IDA	16790700, 23348765
GO:0086075	Function	Gap junction channel activity involved in cardiac conduction electrical coupling	IDA	23348765
GO:0086075	Function	Gap junction channel activity involved in cardiac conduction electrical coupling	IMP	16790700
GO:0086076	Function	Gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IMP	16790700, 20606116, 23348765
GO:0086076	Function	Gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	NAS	15044680
GO:0086077	Function	Gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IDA	22247482
GO:0086078	Function	Gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	IMP	22247482
GO:0086079	Function	Gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling	NAS	15044680
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0098904	Process	Regulation of AV node cell action potential	IMP	22247482
GO:0098905	Process	Regulation of bundle of His cell action potential	IMP	22247482
GO:0098906	Process	Regulation of Purkinje myocyte action potential	IMP	22247482
GO:0098910	Process	Regulation of atrial cardiac muscle cell action potential	IMP	23348765
GO:1990029	Process	Vasomotion	IEA

Other IDs

• MIM: 121013
• HGNC: 4279
• e!Ensembl: ENSG00000265107

Protein

• UniProt ID: P36382
• Protein name: Gap junction alpha-5 protein (Connexin-40) (Cx40)
• Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00029	Connexin	3 → 231	Connexin	Family
  PF16791	Connexin40_C	257 → 358	Connexin 40 C-terminal domain	Domain

• Sequence:

  MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPG
  CQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGS
  GSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLT
  TLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
  PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQ
  VRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV

• Sequence length: 358

Pathways

Reactome:

Gap junction assembly

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation, ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder), ATRIAL FIBRILLATION, FAMILIAL, 11, Familial atrial fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	30061737, 29892015, 20650941
Atrioventricular block	First degree atrioventricular block	rs766840243, rs763809932
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hypertension	Hypertensive disease	rs13306026	19109587
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Persistent truncus arteriosus	Truncus Arteriosus, Persistent	rs267606914, rs1598737972, rs387906813
Schizophrenia	Schizophrenia	rs13447324, 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
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288	22713807
Transposition of great vessels	Transposition of Great Vessels	rs869312707, rs1555246154, rs1565995034, rs1565995146, rs1029377279, rs1565997261, rs1566010195, rs1566005476, rs1870202051

Unknown
Disease term	Disease name	Evidence	References	Source
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		29892015, 30061737	ClinVar
Atrial Fibrillation	familial atrial fibrillation, Atrial Fibrillation			GenCC, GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arrhythmias Cardiac	Associate	16188595, 22247482, 26762269
Atherosclerosis	Associate	25871831
Atrial Fibrillation	Associate	15657225, 16790700, 23134779, 24457199, 25200600, 26634538, 27813566, 29351227, 29915175, 30558760, 31270966
Atrial Fibrillation	Stimulate	21542828
Atrial Fibrillation	Inhibit	31270966
Atrial Standstill	Associate	16188595
Carcinoma Squamous Cell	Associate	28211524
Cardiovascular Diseases	Associate	26516624
Congenital heart block	Associate	27826129
Death	Associate	38039294
Heart Defects Congenital	Associate	22199024, 22318994, 24021551
Heart Diseases	Associate	35205305
Hereditary bundle branch system defect	Associate	22247482
Melanoma	Associate	35682601
Mitral Valve Stenosis	Associate	15657225
Myopathies Structural Congenital	Associate	29351227
Neoplasms	Associate	36833374
Nephrosis congenital	Stimulate	32471989
Neuroblastoma	Associate	22247482
Osteosarcoma	Associate	38039294
Paroxysmal ventricular fibrillation	Associate	33664309
Polycythemia Vera	Associate	29351227
Skin Neoplasms	Associate	28211524
Squamous Cell Carcinoma of Head and Neck	Associate	36833374
Tetralogy of Fallot	Associate	22199024, 24479926
Torsades de Pointes	Associate	33664309
Ventricular Fibrillation	Associate	16790700