CLCN1 (chloride voltage-gated channel 1)

Gene

• Entrez ID: 1180
• Gene name: Chloride voltage-gated channel 1
• Gene symbol: CLCN1
• Synonyms (NCBI Gene): CLC1
• Chromosome: 7
• Chromosome location: 7q34
• Summary: The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55960271	C>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs80356684	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs80356685	C>G	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs80356686	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs80356687	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs80356688	C>T	Pathogenic	Missense variant, intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs80356689	T>C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs80356690	C>G,T	Pathogenic	Missense variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs80356691	C>T	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs80356692	G>A	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs80356693	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356694	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356695	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356696	A>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356697	T>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356698	->CTCA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs80356699	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs80356700	G>A,T	Pathogenic	Missense variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs80356701	T>C	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs80356702	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs80356703	G>A,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs80356704	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356706	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs80356707	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs121912799	T>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121912801	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912805	G>A	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs121912807	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912810	C>T	Pathogenic	Missense variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs139039122	G>A	Uncertain-significance, pathogenic	Missense variant, intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs140026363	->G	Pathogenic	Intron variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs142539932	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs146457619	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs147493705	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs149316679	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs149729531	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs149892539	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs150885084	G>A	Pathogenic	Upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201714423	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs201850090	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs201855153	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201894078	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs201919331	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant
rs202119213	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs202179484	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs202217420	A>G,T	Pathogenic	Genic upstream transcript variant, intron variant
rs369773321	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs375596425	G>A	Pathogenic	Splice donor variant
rs529377088	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs543120965	T>C	Likely-pathogenic	Intron variant
rs561470261	A>T	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs746125212	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs746691295	G>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant, missense variant
rs748639603	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs752041565	TTTG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs755176513	->C	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756199349	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs756981034	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs759188441	G>A	Likely-pathogenic	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs759761559	C>T	Likely-pathogenic, pathogenic	Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs762344462	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs762754992	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs763633152	->C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs764100025	G>A	Likely-pathogenic, pathogenic	Upstream transcript variant, missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs767000881	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, missense variant
rs768119034	ACCCTGCGGAGGCT>-	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs769861892	G>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs770081373	C>-	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs770900468	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs771002652	G>A	Pathogenic	Splice donor variant
rs771532474	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs771721648	G>A	Likely-pathogenic, pathogenic	Splice acceptor variant
rs774396430	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, missense variant
rs774843953	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs776073429	G>A	Likely-pathogenic, pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs777685454	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs780534566	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs780834658	G>A,T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs797045032	GG>TC	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs886041384	T>A	Pathogenic	Splice donor variant
rs886042007	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057518917	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1064794643	T>C	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1085307989	T>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1131691551	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1222525763	G>C,T	Pathogenic	Splice acceptor variant
rs1229066957	G>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1273524525	G>A,C,T	Pathogenic	Splice donor variant
rs1282349760	G>A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1320040467	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1337473924	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, stop gained, upstream transcript variant, non coding transcript variant, synonymous variant
rs1347382107	T>C,G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, synonymous variant
rs1417174086	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1423567292	G>-	Likely-pathogenic, pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, splice acceptor variant
rs1474520642	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs1478129213	C>T	Likely-pathogenic, uncertain-significance	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1554434400	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554434794	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554434857	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs1554436419	CG>TA	Pathogenic	Coding sequence variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1554436427	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant
rs1554436510	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant
rs1554436799	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1554438053	GGAGGC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs1554438432	CA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554438441	->TC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554438471	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554438574	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554439817	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1563074191	GCCTA>-	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1563075864	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, synonymous variant
rs1563078827	G>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant
rs1563084597	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1563086980	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1563090141	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1586484463	C>GGA	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, frameshift variant
rs1586485406	C>T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs1586487826	T>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586496726	CGG>TGA	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1586499614	C>-,CC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1586510870	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1586514992	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1586515112	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005247	Function	Voltage-gated chloride channel activity	IBA	21873635
GO:0005247	Function	Voltage-gated chloride channel activity	IMP	22521272, 26007199, 26502825
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IC	26007199
GO:0005887	Component	Integral component of plasma membrane	IDA	26502825
GO:0006821	Process	Chloride transport	IBA	21873635
GO:0006936	Process	Muscle contraction	IMP	22521272, 26007199
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034707	Component	Chloride channel complex	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	26502825
GO:1902476	Process	Chloride transmembrane transport	IMP	22521272, 26007199, 26502825

Other IDs

• MIM: 118425
• HGNC: 2019
• e!Ensembl: ENSG00000188037

Protein

• UniProt ID: P35523
• Protein name: Chloride channel protein 1 (ClC-1) (Chloride channel protein, skeletal muscle)
• Protein function: Voltage-gated chloride channel involved in skeletal muscle excitability. Generates most of the plasma membrane chloride conductance in skeletal muscle fibers, stabilizes the resting membrane potential and contributes to the repolarization phase
• PDB: 6COY, 6COZ, 6QV6, 6QVB, 6QVC, 6QVD, 6QVU, 8WXI, 8WXJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00654	Voltage_CLC	170 → 572	Voltage gated chloride channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in skeletal muscles.
• Sequence:

  MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQ
  IYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIF
  LVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCH
  LISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
  ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVR
  NYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGL
  LGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP
  REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
  CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTV
  STAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSK
  YTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQAL
  LQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
  GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRAR
  PTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL
  FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAP
  PSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
  GLEEELADILQGPSLRSTDEEDEDELIL

• Sequence length: 988

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Congenital myotonia	Becker Generalized Myotonia, Generalized Myotonia of Thomsen	rs121912799, rs80356700, rs1563078827, rs121912801, rs80356694, rs80356696, rs80356690, rs121912805, rs80356702, rs121912807, rs140026363, rs55960271, rs80356699, rs1586496726, rs80356703, rs80356695, rs80356704, rs80356697, rs80356687, rs80356701, rs80356691, rs80356692, rs762754992, rs776073429, rs146457619, rs768119034, rs886041384, rs202217420, rs1057518917, rs759761559, rs756199349, rs1131691551, rs1229066957, rs774396430, rs767000881, rs756981034, rs763633152, rs769861892, rs375596425, rs1320040467, rs543120965, rs1554434400, rs759188441, rs1554434794, rs764100025, rs746125212, rs1027814542, rs529377088, rs752041565, rs770605959, rs770900468, rs1360333956, rs546411827, rs778647317, rs1803112361, rs1273524525, rs1460714146, rs1802715644	27614575, 23152584, 12390967, 19697366, 22521272, 1379744, 9566422, 10665666, 27118449, 18035046, 11840191, 27415035, 21221019, 26510092, 7951215, 28706458, 23739125, 18337730, 17932099, 26096614, 9736777, 11408615, 27296017, 18337100, 17097617, 25036107, 26007199, 15311340, 22649220, 27580824, 25438602, 22094069, 25749817, 23516313, 12661046, 23097607, 7874130, 10215406, 7951242, 24530047, 22921319, 22407275, 25065301, 22197187, 10644771, 21387378, 26502825, 26633545, 27142102, 17654559, 10051520, 9158157, 10430417, 17990293, 24349310, 8845168, 20399394, 10962018, 10737121, 12456818, 24304580, 11113225, 8112288, 28427807, 22346025, 22995991, 26021757, 24452722, 24037712, 7981750, 23225051, 8857733, 8533761, 7981681, 22641783, 23893571, 15162127, 7581380, 19949657, 23113340, 23810313, 10690989, 24515601, 23424641, 18220014, 20181190, 21204798, 23933576, 9122265, 8571958, 9040760, 27199537, 21045501, 27653901, 27666773
Hyperkalemic periodic paralysis	Hyperkalemic periodic paralysis	rs80338957, rs80338962, rs121908544, rs121908545, rs80338958, rs121908546, rs121908556, rs80338792, rs121908547, rs121908548, rs121908549, rs121908551, rs121908552, rs80338784, rs80338788, rs80338785, rs121908555, rs121908557, rs121908559, rs80338956, rs80338955, rs80338789, rs80338959, rs80338960, rs527236148, rs527236150, rs864622785, rs886041805, rs750053946, rs1057521065, rs1064794243, rs1064795409, rs1555601448, rs780703403, rs1555600605, rs763893717, rs1567816549, rs771340029, rs1567817380, rs1567816461, rs1199222144, rs1235665641, rs774453167, rs1598405334, rs1567819905, rs1597985462, rs1908593639, rs1908916380, rs897448432, rs1909519361, rs1909650741	22649220
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338

Unknown
Disease term	Disease name	Evidence	References	Source
Myocardial infarction	Myocardial Infarction			ClinVar
Myotonia Congenita	myotonia congenita, autosomal dominant, myotonia congenita, autosomal recessive			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Andersen Syndrome	Associate	23516313
Arrhythmias Cardiac	Associate	33263785
Channelopathies	Associate	26502825, 27199537
Cognition Disorders	Associate	29851785
Conduct Disorder	Associate	33263785
Depressive Disorder	Associate	23933576
Dystonia 18	Associate	27098784
Epilepsy	Associate	25036107, 38544349
Familial paroxysmal dystonia	Associate	25205014, 27098784
Fasciculation	Associate	27580824
Genetic Diseases Inborn	Associate	30487393
Helicobacter Infections	Associate	14711373
Hypokalemia	Associate	32407401
Hypokalemic Periodic Paralysis Type 2	Associate	32407401
Lagophthalmos	Associate	22106717
Leukoencephalopathies	Associate	9576553
Lipoma	Associate	27199537
Muscle Cramp	Associate	24304580
Muscle Neoplasms	Associate	30243293
Muscle Weakness	Associate	22106717
Muscular Dystrophies Limb Girdle	Associate	27142102
Myalgia	Associate	23097607
Myoclonic Epilepsy Juvenile	Associate	38544349
Myopathy Granulovacuolar Lobular with Electrical Myotonia	Associate	23483815
Myotonia	Associate	22106717, 22649220, 23097607, 24304580, 25036107, 26096614, 26502825, 27324117, 31772215, 33092578, 33263785, 33670307, 37106355, 37445828, 38544349, 8533761
Myotonia Congenita	Associate	10644771, 12196568, 12456816, 19949657, 21045501, 22641783, 22649220, 23152584, 23483815, 23516313, 23933576, 24304580, 24349310, 24625573, 25036107, 25205014, 26007199, 26036855, 26096614, 26260254, 26502825, 27098784, 27324117, 27415035, 27580824, 29500929, 29851785, 29935101, 30243293, 31544778, 31610484, 32407401, 33092578, 33507632, 33670307, 34529042, 35866763, 37106355, 37355912, 8301644, 8533761, 8571958, 9122265
Myotonic Disorders	Associate	24304580, 26096614, 27266866, 30243293, 32407401, 33092578, 33263785, 33670307
Myotonic Dystrophy	Associate	12150906, 17708420, 18807109, 23097607, 29500929, 37445828, 9576553
Neutral Lipid Storage Disease with Myopathy	Associate	37106355
Nondystrophic myotonia	Associate	23152584, 23417379, 23810313, 27415035, 30535218, 30647473, 33263785, 34852780, 35866763, 38427496
Pain	Associate	23097607
Paralyses Familial Periodic	Associate	32407401
Paroxysmal nonkinesigenic dyskinesia	Associate	27098784
Respiratory Paralysis	Associate	31772215
Seizures	Associate	27266866
Summitt syndrome	Associate	29851785