KCND3 (potassium voltage-gated channel subfamily D member 3)

Gene

• Entrez ID: 3752
• Gene name: Potassium voltage-gated channel subfamily D member 3
• Gene symbol: KCND3
• Synonyms (NCBI Gene): BRGDA9, KCND3L, KCND3S, KSHIVB, KV4.3, SCA19, SCA22
• Disease Acronyms (UniProt): BRGDA9, SCA19
• Chromosome: 1
• Chromosome location: 1p13.2
• Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149344567	C>T	Pathogenic, uncertain-significance	Genic downstream transcript variant, 3 prime UTR variant, missense variant, coding sequence variant
rs150401343	G>A	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs200532657	C>T	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs201340369	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369361457	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397515475	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs397515476	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs786205867	C>T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs797045634	C>A	Pathogenic	Missense variant, coding sequence variant
rs867628133	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518007	C>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519453	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057521793	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064794895	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1571636501	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571636508	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571939623	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1571939827	A>T	Pathogenic	Coding sequence variant, missense variant
rs1571939905	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021549	hsa-miR-142-3p	Microarray	17612493
MIRT051143	hsa-miR-16-5p	CLASH	23622248
MIRT035756	hsa-miR-449c-5p	CLASH	23622248
MIRT702548	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT702547	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT702546	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT702545	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT702544	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT702543	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT702542	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT702541	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT702540	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT702539	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT702538	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT702537	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT702536	hsa-miR-302e	HITS-CLIP	23313552
MIRT702535	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT702534	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT702533	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT702532	hsa-miR-520b	HITS-CLIP	23313552
MIRT702531	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT702530	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT702529	hsa-miR-520e	HITS-CLIP	23313552
MIRT702528	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT702527	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT702526	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT702525	hsa-miR-520h	HITS-CLIP	23313552
MIRT702524	hsa-miR-1306-5p	HITS-CLIP	23313552
MIRT702523	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT702522	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT702521	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT702520	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT702519	hsa-miR-26b-3p	HITS-CLIP	23313552
MIRT702518	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT702517	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT702516	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT625924	hsa-miR-609	HITS-CLIP	23824327
MIRT625923	hsa-miR-376a-3p	HITS-CLIP	23824327
MIRT625922	hsa-miR-376b-3p	HITS-CLIP	23824327
MIRT625921	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT474978	hsa-miR-2392	PAR-CLIP	23592263
MIRT474979	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT474977	hsa-miR-139-5p	PAR-CLIP	23592263
MIRT474976	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT474975	hsa-miR-4534	PAR-CLIP	23592263
MIRT474974	hsa-miR-8082	PAR-CLIP	23592263
MIRT474973	hsa-miR-548v	PAR-CLIP	23592263
MIRT474972	hsa-miR-6124	PAR-CLIP	23592263
MIRT474971	hsa-miR-765	PAR-CLIP	23592263
MIRT474970	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT702548	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT702547	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT702546	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT702545	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT702544	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT702543	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT702542	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT702541	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT702540	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT702539	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT702538	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT702537	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT702536	hsa-miR-302e	HITS-CLIP	23313552
MIRT702535	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT702534	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT702533	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT702532	hsa-miR-520b	HITS-CLIP	23313552
MIRT702531	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT702530	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT702529	hsa-miR-520e	HITS-CLIP	23313552
MIRT702528	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT702527	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT702526	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT702525	hsa-miR-520h	HITS-CLIP	23313552
MIRT702524	hsa-miR-1306-5p	HITS-CLIP	23313552
MIRT702523	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT702522	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT702521	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT702520	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT702519	hsa-miR-26b-3p	HITS-CLIP	23313552
MIRT702518	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT702517	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT702516	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT625924	hsa-miR-609	HITS-CLIP	23824327
MIRT625923	hsa-miR-376a-3p	HITS-CLIP	23824327
MIRT625922	hsa-miR-376b-3p	HITS-CLIP	23824327
MIRT625921	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT474978	hsa-miR-2392	PAR-CLIP	23592263
MIRT474979	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT474977	hsa-miR-139-5p	PAR-CLIP	23592263
MIRT474976	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT474975	hsa-miR-4534	PAR-CLIP	23592263
MIRT474974	hsa-miR-8082	PAR-CLIP	23592263
MIRT474973	hsa-miR-548v	PAR-CLIP	23592263
MIRT474972	hsa-miR-6124	PAR-CLIP	23592263
MIRT474971	hsa-miR-765	PAR-CLIP	23592263
MIRT474970	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT1080747	hsa-miR-3675-5p	CLIP-seq
MIRT1080748	hsa-miR-4514	CLIP-seq
MIRT1080749	hsa-miR-4692	CLIP-seq
MIRT1080750	hsa-miR-486-3p	CLIP-seq
MIRT2020016	hsa-miR-4264	CLIP-seq
MIRT2020017	hsa-miR-4797-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IBA	21873635
GO:0005250	Function	A-type (transient outward) potassium channel activity	IDA	21349352, 21493962
GO:0005515	Function	Protein binding	IPI	17187064
GO:0005886	Component	Plasma membrane	TAS
GO:0006813	Process	Potassium ion transport	TAS	8734615
GO:0008076	Component	Voltage-gated potassium channel complex	IBA	21873635
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	21493962
GO:0014069	Component	Postsynaptic density	IBA	21873635
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0043025	Component	Neuronal cell body	IBA	21873635
GO:0043197	Component	Dendritic spine	IBA	21873635
GO:0044325	Function	Ion channel binding	IPI	21493962
GO:0045211	Component	Postsynaptic membrane	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0061337	Process	Cardiac conduction	TAS
GO:0071805	Process	Potassium ion transmembrane transport	IBA	21873635
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	TAS	26016905
GO:0086009	Process	Membrane repolarization	IDA	21493962
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	TAS	26016905
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	21349352
GO:0097623	Process	Potassium ion export across plasma membrane	IBA	21873635
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	21349352, 21493962
GO:0097623	Process	Potassium ion export across plasma membrane	ISS	26016905
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099060	Component	Integral component of postsynaptic specialization membrane	IEA
GO:0099625	Process	Ventricular cardiac muscle cell membrane repolarization	IMP	21349352
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	21349352

Other IDs

• MIM: 605411
• HGNC: 6239
• e!Ensembl: ENSG00000171385

Protein

• UniProt ID: Q9UK17
• Protein name: A-type voltage-gated potassium channel KCND3 (Potassium voltage-gated channel subfamily D member 3) (Voltage-gated potassium channel subunit Kv4.3)
• Protein function: Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart (PubMed:10200233, PubMed:17187064, PubMed:21349352, PubMed:22457051, PubMed:232808
• PDB: 1S1G, 2NZ0, 7W3Y, 7W6N, 7W6S, 7W6T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11601	Shal-type	3 → 31	Shal-type voltage-gated potassium channels, N-terminal	Domain
  PF02214	BTB_2	42 → 131	BTB/POZ domain	Domain
  PF00520	Ion_trans	182 → 414	Ion transport protein	Family
  PF11879	DUF3399	442 → 563	Domain of unknown function (DUF3399)	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate nucleus (PubMed:10200233, PubMed:10729221, PubMed:9843794). Detected at lower levels in liver, skeletal muscle, kidney and pancreas (PubMed:
• Sequence:

  MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLER
  YPDTLLGSTEKEFFFNEDTKEYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAF
  YGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESMPSLSFRQTMWRAFENPHTST
  LALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVE
  YLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKF
  SRHSQGLRILGYTLKSCASELGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWY
  TIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVPVIVSNFSRIYHQNQRADKRR
  AQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLL
  HCLEKTTGLSYLVDDPLLSVRTSTIKNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHP
  GLTTTCCSRRSKKTTHLPNSNLPATRLRSMQELSTIHIQGSEQPSLTTSRSSLNLKADDG
  LRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNTNIPSIASNVVKVSAL

• Sequence length: 655

Pathways

KEGG:

Spinocerebellar ataxia

Reactome:

Voltage gated Potassium channels
Phase 1 - inactivation of fast Na+ channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	29892015, 28416822, 30061737
Atrioventricular block	First degree atrioventricular block	rs766840243, rs763809932
Brugada syndrome	Brugada Syndrome (disorder), BRUGADA SYNDROME 9, Brugada Syndrome 1, Brugada syndrome	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776, rs199473282, rs16969925, rs199473096, rs199473565, rs199473097, rs199473566, rs199473101, rs199473153, rs199473584, rs199473168, rs199473587, rs199473170, rs199473172, rs199473175, rs199473055, rs199473556, rs199473058, rs199473225, rs199473613, rs199473271, rs199473062, rs199473623, rs199473304, rs199473305, rs199473629, rs199473072, rs199473083, rs483353016, rs587777457, rs587777742, rs727505158, rs727503411, rs730880210, rs786204839, rs786205830, rs138450474, rs794727487, rs794727637, rs794728924, rs749697698, rs794728918, rs794728917, rs794728914, rs397514450, rs794728912, rs794728906, rs794728849, rs794728843, rs794728846, rs796065312, rs796065311, rs863225273, rs869025522, rs869025520, rs777689378, rs886037903, rs754221948, rs199473284, rs886039072, rs1057519275, rs1060501130, rs759924541, rs1060501136, rs1060500103, rs1064794424, rs756159737, rs1135401773, rs1553695282, rs1553605932, rs1555475434, rs1553695764, rs1553700699, rs1553705586, rs1417036453, rs1204915217, rs761505217, rs1559727990, rs1559414131, rs755356387, rs1559729142, rs587781159, rs1559738598, rs1553699766, rs1237724419, rs1060500107, rs1575719863, rs1480085793, rs1575706847, rs199473620, rs1575751854, rs1207394743, rs1369632373, rs2061229370, rs2061654524, rs1274495820, rs2064222084, rs2064208734	21349352, 10200233, 22284586, 22840528, 26016905, 22457051
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Prostate cancer	Prostate carcinoma	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	24785509
Sick sinus syndrome	Sick Sinus Syndrome	rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276
Spinocerebellar ataxia	Spinocerebellar ataxia 19, Spinocerebellar ataxia type 19/22	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	22890214, 23280837, 23280838, 28895081
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Unknown
Disease term	Disease name	Evidence	References	Source
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		30061737, 29892015, 28416822	ClinVar
Brugada Syndrome	Brugada syndrome 1			GenCC
Neurodevelopmental Disorders	neurodevelopmental disorder			GenCC
Atrial Fibrillation	Atrial Fibrillation			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenomyosis	Stimulate	26830992
Anorchia	Associate	30776697
Apraxias	Associate	26189493
Arrhythmias Cardiac	Associate	18192214, 21349352, 29259226, 37446101
Asthma	Associate	28139761
Ataxia	Associate	25854634, 30776697, 37446101
Atherosclerosis	Associate	37372394
Atrial Fibrillation	Inhibit	11693772
Atrial Fibrillation	Associate	32921676, 35861988, 37122220
Atrial Flutter	Associate	35861988
Attention Deficit Disorder with Hyperactivity	Associate	26189493, 30776697
Autistic Disorder	Associate	27562213
Blood Coagulation Disorders Inherited	Associate	29482223
Brain Diseases	Associate	29527639, 30776697
Brugada Syndrome	Associate	21349352, 22155597, 22457051, 22840528, 24963029, 26016905, 30776697, 32709127, 35861988
Carcinoma Renal Cell	Associate	25854634
Cerebellar Ataxia	Associate	26189493, 29482223, 34361012
Cerebrospinal Fluid Rhinorrhea	Associate	37446101
Channelopathies	Associate	32709127, 32921676
Chronobiology Disorders	Associate	20042375
Cognition Disorders	Associate	28947073, 34361012
Communication Disorders	Associate	22105621
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	36849527
Death Sudden	Associate	22457051, 35861988
Developmental Disabilities	Associate	37446101
Drug Resistant Epilepsy	Associate	30776697
Dyslipidemias	Associate	37372394
Early Onset Glaucoma	Associate	35861988
Epilepsies Myoclonic	Associate	30776697
Epilepsy	Associate	12383275, 26189493, 28947073, 30776697, 32607479, 32921676, 33232902
Epileptic Encephalopathy Early Infantile 3	Associate	30292882, 31075689
Epileptic encephalopathy Lennox Gastaut type	Associate	35861988
Episodic Ataxia	Associate	19903818
Glaucoma 1 Open Angle J	Associate	35861988
Heart Arrest	Associate	35861988
Heart Failure	Associate	29259226, 37762145
Hypertension	Associate	37372394
Inflammation	Associate	26830992
Intellectual Disability	Associate	26189493, 32921676
Iron Deficiencies	Associate	34361012
Joint Diseases	Associate	26189493
Keratoconus	Associate	28207827
Long QT Syndrome	Associate	18052691, 18192214
Microvascular Angina	Associate	32709127, 32921676
Multiple Myeloma	Associate	24995361
Myoclonic Epilepsy Juvenile	Associate	12383275
Myokymia	Associate	19903818
Neurodegenerative Diseases	Associate	25854634, 34361012
Osteoporosis	Associate	36736467
Pain	Associate	26830992
Parkinson Disease	Associate	36736467
Parkinson Disease Secondary	Associate	28947073, 29527639, 34361012, 37446101
Paroxysmal ventricular fibrillation	Associate	22457051
Pigmentation Disorders	Associate	37122220
Seizures	Associate	12383275
Spinocerebellar ataxia 19	Associate	23280837, 25854634, 26189493, 28947073, 29527639, 30776697, 34087979, 37446101, 40140957
Spinocerebellar Ataxias	Associate	12383275, 23280837, 26374734, 29527639, 32607479, 32709127
Spinocerebellar Degenerations	Associate	23280837
Strabismus	Associate	26189493
Sudden Infant Death	Associate	22155597, 22457051
Tachycardia Ventricular	Inhibit	18811803
Tachycardia Ventricular	Associate	35861988
Ventricular Fibrillation	Inhibit	18811803
Ventricular Fibrillation	Associate	35861988
Vision Disorders	Associate	30776697