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
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	IMP	22521272, 26007199, 26502825
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IC	26007199
GO:0005886	Component	Plasma membrane	IDA	26502825
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IBA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006936	Process	Muscle contraction	IMP	22521272, 26007199
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0030315	Component	T-tubule	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	26502825
GO:0055085	Process	Transmembrane transport	IEA
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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs55960271, rs770605959	RCV001813999 RCV001836882	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achilles tendon contracture	Likely pathogenic	rs1554438441	RCV000626581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant intermediate Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs768119034	RCV000664241	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Batten-Turner congenital myopathy	Likely pathogenic; Pathogenic	rs139158852, rs762754992, rs776073429, rs146457619, rs768119034, rs80356700, rs80356694, rs80356696, rs80356690, rs80356702, rs55960271, rs80356699, rs80356704, rs80356701, rs80356691, rs772027125	RCV001837017 RCV000194136 RCV000305146 RCV000778823 RCV000778142 RCV000020113 RCV000020101 RCV000020103 RCV000020117 RCV000020121 RCV000020107 RCV000020109 RCV000020102 RCV000020118 RCV000020119 RCV001836901	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral palsy	Likely pathogenic; Pathogenic	rs55960271	RCV001794458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CLCN1-related disorder	Pathogenic; Likely pathogenic	rs146457619, rs150885084, rs121912799, rs80356700, rs121912801, rs80356690, rs55960271, rs80356703, rs80356701, rs774396430, rs767000881, rs201714423	RCV004737396 RCV004535246 RCV002291268 RCV004532391 RCV004532392 RCV004528125 RCV004737160 RCV003335049 RCV004541011 RCV004737585 RCV006270389 RCV004535670	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs771721648	RCV005901170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myotonia, autosomal dominant form	Likely pathogenic; Pathogenic	rs762754992, rs757109632, rs1802702027, rs138922145, rs2116834548, rs2116836321, rs757481015, rs1279658001, rs1312002847, rs2116865174, rs1237554305, rs1802495428, rs773025750, rs769092535, rs1009716258, rs2116855161, rs769861892, rs1563074540, rs2116842799, rs2116373517, rs2116384132, rs2116397821, rs2116855121, rs753308829, rs80356702, rs2116383424, rs1383055795, rs1802699135, rs2116864878, rs772150974, rs746401512, rs2116838394, rs2116384782, rs2116374801, rs2116837535, rs1417174086, rs775224495, rs1474851853, rs2116838620, rs2116852322, rs780421370, rs2487059203, rs2487057516, rs1563074523, rs1490537212, rs1295805735, rs1333207710, rs1803265151, rs2485444714, rs1448807519, rs2485435227, rs755211647, rs2485436810, rs375596425, rs1480966586, rs2487015403, rs2487030075, rs1486868849, rs150885084, rs2487064738, rs2487015952, rs769312894, rs776073429, rs146457619, rs886042007, rs755176513, rs768119034, rs886041384, rs202217420, rs2487056938, rs1389779829, rs889073641, rs2487034267, rs1056856929, rs1802442027, rs1192056840, rs2487090280, rs2487025773, rs2485448281, rs762272849, rs1224227320, rs1802429044, rs1802699644, rs2487058978, rs2116854732, rs777685454, rs2487090418, rs1803105951, rs765393777, rs761916322, rs773806167, rs56307536, rs2485444292, rs1273524525, rs1563087306, rs1802700924, rs2487082521, rs2487084077, rs1586507590, rs2487034068, rs1441448091, rs2487065042, rs2487015109, rs2485448381, rs2487029590, rs2485436780, rs2485434750, rs2485437743, rs2485448767, rs546411827, rs563275093, rs2487059186, rs1197125822, rs2485448093, rs2487015049, rs1255229981, rs1181586555, rs2487064869, rs1291473151, rs2487031587, rs1802760935, rs2487015299, rs1285179667, rs2487031771, rs1554436799, rs2485444768, rs2485434682, rs775384507, rs1266327660, rs2485435041, rs2487083724, rs121912799, rs80356700, rs121912801, rs80356694, rs80356696, rs80356690, rs121912805, rs121912807, rs140026363, rs55960271, rs80356699, rs80356703, rs80356695, rs80356704, rs80356697, rs80356686, rs80356685, rs80356687, rs80356688, rs80356701, rs80356691, rs80356692, rs2487064604, rs759761559, rs756199349, rs1131691551, rs1474520642, rs1423567292, rs1554436419, rs1229066957, rs1337473924, rs774396430, rs767000881, rs201714423, rs756981034, rs763633152, rs1554438432, rs201894078, rs1320040467, rs771721648, rs543120965, rs1554438574, rs1554434400, rs759188441, rs1554434794, rs1554439817, rs764100025, rs746125212, rs748639603, rs749205522, rs1027814542, rs1563084597, rs1222525763, rs780534566, rs529377088, rs1563091175, rs1347382107, rs771002652, rs561470261, rs752041565, rs1563090141, rs770605959, rs1586485406, rs771532474, rs1586487826, rs772027125, rs770081373, rs921162119, rs1586499614, rs1586510870, rs754350357, rs770900468, rs1586484463, rs1586514992, rs1586515112, rs1360333956, rs1802763171, rs1319653705, rs778647317, rs376321837, rs1424799320, rs1803112361, rs1803225186, rs1460714146, rs1802715644, rs1802428440, rs1269268607, rs1802376231, rs1802702190, rs1563087092, rs1803238026, rs755343536, rs1802291231, rs761601545	RCV003770636 RCV001339411 RCV001343192 RCV001381379 RCV001389549 RCV001382306 RCV001382410 RCV001382412 RCV001382413 RCV001384830 RCV001386665 RCV003771642 RCV005209556 RCV001868856 RCV002544260 RCV003772148 RCV001824196 RCV002012305 RCV001994597 RCV001908749 RCV001934760 RCV001898392 RCV002037935 RCV001964626 RCV001942088 RCV002002953 RCV002040519 RCV002040619 RCV001925389 RCV001982088 RCV002029647 RCV001980223 RCV002003761 RCV001965898 RCV001863711 RCV001952828 RCV001886549 RCV003774733 RCV002267652 RCV002267655 RCV002267657 RCV002267658 RCV002267660 RCV003774959 RCV002290325 RCV003062144 RCV003062145 RCV003037263 RCV003062146 RCV003087024 RCV002586067 RCV002741394 RCV000793565 RCV002824513 RCV002819478 RCV002806528 RCV002851617 RCV002900210 RCV002908039 RCV002972013 RCV002998957 RCV003002570 RCV003042207 RCV003038414 RCV003057709 RCV003024358 RCV003989820 RCV000543122 RCV000638257 RCV002519068 RCV000705425 RCV000560216 RCV000552780 RCV001037641 RCV000763167 RCV003334472 RCV003778474 RCV005216128 RCV003785599 RCV003785682 RCV003785964 RCV003784218 RCV003793528 RCV003782823 RCV003785282 RCV003781071 RCV003781072 RCV003781073 RCV003781076 RCV003781077 RCV003781078 RCV003781079 RCV003781081 RCV003781082 RCV003781085 RCV003781086 RCV003781262 RCV003781377 RCV003795550 RCV003779404 RCV003782655 RCV003790459 RCV003786629 RCV003792651 RCV003792724 RCV003798341 RCV003791913 RCV003792282 RCV003807956 RCV003806491 RCV003791331 RCV003799800 RCV003799902 RCV003805693 RCV003803516 RCV003803728 RCV003799050 RCV003805267 RCV003800590 RCV003800918 RCV003794836 RCV003794847 RCV003797318 RCV003800212 RCV003808629 RCV003807150 RCV003804615 RCV003802215 RCV003809578 RCV003809743 RCV003809899 RCV003812342 RCV003812381 RCV003812774 RCV003988680 RCV003990441 RCV003991127 RCV003991898 RCV000184008 RCV000019084 RCV000692794 RCV000019089 RCV000685420 RCV000019091 RCV001041229 RCV000019095 RCV001382414 RCV001382411 RCV000019099 RCV000019100 RCV000638255 RCV002267654 RCV000638249 RCV001224306 RCV001208684 RCV000545021 RCV000763168 RCV002043970 RCV000477848 RCV002514123 RCV000638231 RCV004527494 RCV004527495 RCV000701179 RCV000536398 RCV001387794 RCV000689048 RCV000793253 RCV000638230 RCV001386290 RCV001390938 RCV000638252 RCV000527543 RCV000695020 RCV001857897 RCV000691433 RCV001060222 RCV000638235 RCV001041972 RCV000638229 RCV001853654 RCV000813032 RCV000540290 RCV000538778 RCV001386447 RCV000558306 RCV001382363 RCV001384031 RCV000802171 RCV000638241 RCV000810078 RCV000692856 RCV000706396 RCV000691234 RCV000691419 RCV000693331 RCV000695019 RCV000688034 RCV000700752 RCV000691722 RCV000700139 RCV001861960 RCV003768102 RCV001223937 RCV002536582 RCV001855956 RCV001063540 RCV000819257 RCV000800510 RCV000813660 RCV000822037 RCV000819385 RCV000821657 RCV000803504 RCV000822873 RCV000791909 RCV000793259 RCV001212828 RCV001247973 RCV001037787 RCV001035266 RCV003769412 RCV001036751 RCV001069020 RCV001062860 RCV001067338 RCV001067172 RCV001047235 RCV001069532 RCV001067924 RCV001042853 RCV001045841 RCV001037981 RCV001862702 RCV001257324 RCV001221403 RCV001212337 RCV001203792 RCV001212715 RCV001230055 RCV001236573 RCV001237765 RCV001257255 RCV001253400 RCV005040110 RCV001296750	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myotonia, autosomal recessive form	Likely pathogenic; Pathogenic	rs762754992, rs757109632, rs1802702027, rs138922145, rs2116834548, rs2116836321, rs757481015, rs1279658001, rs1312002847, rs2116865174, rs1237554305, rs2116837885, rs1802495428, rs773025750, rs769092535, rs1009716258, rs2116855161, rs769861892, rs1563074540, rs2116842799, rs2116373517, rs2116384132, rs2116397821, rs2116855121, rs753308829, rs80356702, rs2116383424, rs1383055795, rs1802699135, rs2116864878, rs772150974, rs746401512, rs2116838394, rs2116384782, rs2116374801, rs2116837535, rs1417174086, rs2116838620, rs2116852322, rs2487059203, rs1563074523, rs1490537212, rs1295805735, rs1333207710, rs1803265151, rs2485444714, rs1448807519, rs2485435227, rs755211647, rs2485436810, rs375596425, rs1480966586, rs2487015403, rs2487030075, rs1486868849, rs150885084, rs2487064738, rs2487015952, rs769312894, rs776073429, rs146457619, rs886042007, rs755176513, rs768119034, rs886041384, rs202217420, rs2487059295, rs2487060422, rs1389779829, rs889073641, rs2487034267, rs1056856929, rs1802442027, rs1192056840, rs2487090280, rs2487025773, rs2485448281, rs762272849, rs1224227320, rs1802429044, rs1802699644, rs2487058978, rs2116854732, rs777685454, rs2487090418, rs1803105951, rs765393777, rs761916322, rs773806167, rs56307536, rs2485444292, rs1273524525, rs1563087306, rs1802700924, rs2487082521, rs2487084077, rs1586507590, rs2487034068, rs1441448091, rs2487065042, rs2487015109, rs2485448381, rs2487029590, rs2485436780, rs2485434750, rs2485437743, rs2485448767, rs546411827, rs563275093, rs2487059186, rs1197125822, rs2485448093, rs2487015049, rs1255229981, rs1181586555, rs2487064869, rs1291473151, rs2487031587, rs1802760935, rs2487015299, rs1285179667, rs2487031771, rs1554436799, rs2485444768, rs2485434682, rs2487057016, rs2485434733, rs2485434788, rs2485434813, rs2487033881, rs2487039629, rs121912805, rs121912799, rs80356700, rs1563078827, rs121912801, rs80356694, rs80356696, rs80356690, rs121912807, rs140026363, rs55960271, rs80356699, rs1586496726, rs80356703, rs80356704, rs80356697, rs80356686, rs80356685, rs80356687, rs80356688, rs80356701, rs80356691, rs80356692, rs2487064604, rs759761559, rs756199349, rs1131691551, rs1474520642, rs1423567292, rs1554436419, rs1229066957, rs1337473924, rs774396430, rs767000881, rs201714423, rs756981034, rs763633152, rs1554438432, rs201894078, rs1320040467, rs771721648, rs543120965, rs1554438574, rs1554434400, rs759188441, rs1554434794, rs1554439817, rs764100025, rs746125212, rs748639603, rs749205522, rs1027814542, rs1563084597, rs1222525763, rs780534566, rs529377088, rs1563091175, rs1347382107, rs771002652, rs561470261, rs752041565, rs1563090141, rs770605959, rs1586485406, rs771532474, rs1586487826, rs772027125, rs770081373, rs921162119, rs1586499614, rs1586510870, rs754350357, rs770900468, rs1586484463, rs1586514992, rs1586515112, rs1266327660, rs1360333956, rs1802763171, rs1319653705, rs778647317, rs376321837, rs1424799320, rs1803112361, rs1803225186, rs1460714146, rs1802715644, rs1802428440, rs1269268607, rs1802376231, rs1802702190, rs1563087092, rs1803238026, rs755343536, rs1802291231, rs761601545	RCV003883175 RCV001339411 RCV001343192 RCV001381379 RCV001389549 RCV001382306 RCV001382410 RCV001382412 RCV001382413 RCV001384830 RCV001386665 RCV003330099 RCV002267638 RCV005209556 RCV001868856 RCV002544260 RCV003772148 RCV001885370 RCV002012305 RCV001994597 RCV001908749 RCV001934760 RCV001898392 RCV002037935 RCV001964626 RCV001942088 RCV002002953 RCV002040519 RCV002040619 RCV001925389 RCV001982088 RCV002029647 RCV001980223 RCV002003761 RCV001965898 RCV001863711 RCV001952828 RCV001886549 RCV002251167 RCV002267656 RCV005239340 RCV002289087 RCV003062144 RCV003062145 RCV003037263 RCV003062146 RCV003087024 RCV002586067 RCV002741394 RCV000793565 RCV002824513 RCV002819478 RCV002806528 RCV002851617 RCV002900210 RCV002908039 RCV002972013 RCV002998957 RCV003002570 RCV003042207 RCV003038414 RCV003057709 RCV003024358 RCV000543122 RCV000638257 RCV002519068 RCV000705425 RCV000560216 RCV000552780 RCV001037641 RCV000763167 RCV003330211 RCV003330219 RCV003778474 RCV005216128 RCV003785599 RCV003785682 RCV003785964 RCV003784218 RCV003793528 RCV003782823 RCV003785282 RCV003781071 RCV003781072 RCV003781073 RCV003781076 RCV003781077 RCV003781078 RCV003781079 RCV003781081 RCV003781082 RCV003781085 RCV003781086 RCV003781262 RCV003781377 RCV003795550 RCV003779404 RCV003782655 RCV003790459 RCV003786629 RCV003792651 RCV003792724 RCV003798341 RCV003791913 RCV003792282 RCV003807956 RCV003806491 RCV003791331 RCV003799800 RCV003799902 RCV003805693 RCV003803516 RCV003803728 RCV003799050 RCV003805267 RCV003800590 RCV003800918 RCV003794836 RCV003794847 RCV003797318 RCV003800212 RCV003808629 RCV003807150 RCV003804615 RCV003802215 RCV003809578 RCV003809743 RCV003809899 RCV003812342 RCV003812381 RCV003812774 RCV003883249 RCV003883252 RCV003883253 RCV003883254 RCV003883255 RCV003883256 RCV003883257 RCV000019083 RCV000627758 RCV000019086 RCV000019087 RCV001237767 RCV000685420 RCV000690053 RCV000019093 RCV000019094 RCV001382414 RCV001382411 RCV000019098 RCV001049292 RCV000019101 RCV000638255 RCV000638249 RCV001826481 RCV001208684 RCV000545021 RCV000763168 RCV002043970 RCV000477848 RCV001823101 RCV000638231 RCV004527494 RCV004527495 RCV000701179 RCV000536398 RCV001387794 RCV000689048 RCV000793253 RCV000638230 RCV001386290 RCV001390938 RCV000638252 RCV000527543 RCV000695020 RCV001857897 RCV000691433 RCV001060222 RCV000638235 RCV001041972 RCV000638229 RCV001853654 RCV000813032 RCV000540290 RCV000538778 RCV000541514 RCV000558306 RCV000546329 RCV001384031 RCV000802171 RCV000638241 RCV000019088 RCV000692856 RCV000706396 RCV000691234 RCV000691419 RCV000693331 RCV000695019 RCV000688034 RCV000700752 RCV000691722 RCV000700139 RCV001861960 RCV003768102 RCV001223937 RCV000761495 RCV001855956 RCV003883164 RCV000819257 RCV000800510 RCV000813660 RCV000822037 RCV000819385 RCV000821657 RCV000803504 RCV000822873 RCV000791909 RCV000793259 RCV000987990 RCV001247973 RCV001037787 RCV001035266 RCV003769412 RCV001036751 RCV001069020 RCV001062860 RCV001067338 RCV001067172 RCV001047235 RCV001069532 RCV001067924 RCV001042853 RCV001045841 RCV001037981 RCV001862702 RCV005036404 RCV001199135 RCV001221403 RCV001212337 RCV001203792 RCV001212715 RCV001230055 RCV001236573 RCV001237765 RCV001257255 RCV005040110 RCV001296750	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EMG: myopathic abnormalities	Likely pathogenic; Pathogenic	rs55960271	RCV000626582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperkalemic periodic paralysis	Pathogenic	rs777888721	RCV002306244	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis, type 1	Pathogenic	rs778587934	RCV002306245	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplasia of the maxilla	Likely pathogenic	rs1554438441	RCV000626581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lumbar hyperlordosis	Likely pathogenic	rs1554438441	RCV000626581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metachromatic leukodystrophy	Likely pathogenic	rs2487058978	RCV004542250	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Likely pathogenic; Pathogenic	rs55960271	RCV000626582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia	Pathogenic; Likely pathogenic	rs80356690, rs1554438441	RCV000626584 RCV000626581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia levior	Likely pathogenic; Pathogenic	rs80356696, rs55960271	RCV000019090 RCV005428993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RASopathy	Likely pathogenic; Pathogenic	rs759188441	RCV004541677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal muscle channelopathy	Likely pathogenic; Pathogenic	rs202217420, rs561470261	RCV005860059 RCV006250222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal muscle hypertrophy	Likely pathogenic	rs1554438441	RCV000626581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Smith-Lemli-Opitz syndrome	Pathogenic; Likely pathogenic	rs150885084, rs768119034	RCV001753743 RCV001753742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Pathogenic; Likely pathogenic	rs150885084, rs768119034, rs1803407825, rs121912799, rs55960271, rs748639603, rs1563090141, rs1586485406	RCV003319192 RCV003319191 RCV003319155 RCV001548747 RCV001564017 RCV003319405 RCV003319419 RCV003319212	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BECKER GENERALIZED MYOTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG: myotonic discharges	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, METACHROMATIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THOMSEN AND BECKER DISEASE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	23516313	Associate	★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	25188014		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	33263785	Associate	★☆☆☆☆ Found in Text Mining only
Becker Generalized Myotonia	Congenital myotonia	CLINVAR_DG	10051520, 10430417, 10644771, 10665666, 10690989, 10737121, 10962018, 11408615, 11840191, 12390967, 12456818, 12661046, 1379744, 15162127, 15311340, 17097617, 17654559, 17932099, 17990293, 18035046, 18220014, 18337100, 18337730, 19697366, 19949657, 20181190, 21045501, 21204798, 21221019, 21387378, 22094069, 22197187, 22346025, 22407275, 22521272, 22649220, 22921319, 22995991, 23097607, 23113340, 23152584, 23225051, 23424641, 23516313, 23739125, 23810313, 23893571, 23933576, 24037712, 24304580, 24349310, 24452722, 24515601, 24530047, 25036107, 25065301, 25438602, 25749817, 26007199, 26021757, 26096614, 26502825, 26633545, 27118449, 27142102, 27199537, 27296017, 27415035, 27580824, 27614575, 28427807, 28706458, 7581380, 7874130, 7951215, 7951242, 7981750, 8112288, 8533761, 8845168, 8857733, 9040760, 9122265, 9158157, 9566422, 9736777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker Generalized Myotonia	Congenital myotonia	BEFREE	10215406, 10619717, 10737121, 15116370, 16854622, 22649220, 23152584, 23933576, 24349310, 24452722, 26007199, 27300293, 30243293, 7951242, 8857733, 9566422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker Generalized Myotonia	Congenital myotonia	UNIPROT_DG	10215406, 10644771, 11113225, 12661046, 1379744, 19697366, 22521272, 22641783, 26007199, 26096614, 26502825, 26510092, 7874130, 7951242, 7981681, 8533761, 8571958, 8845168, 9566422, 9736777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker Generalized Myotonia	Congenital myotonia	GENOMICS_ENGLAND_DG	17932099, 22649220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker Generalized Myotonia	Congenital myotonia	CTD_human_DG	20399394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	24349310, 26007199, 27300293, 30243293, 7951242		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29851785	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	33263785	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11459923, 16472140		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	23933576	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia 18	Dystonia	Pubtator	27098784	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	16876389, 18807109, 21364698, 22407275, 25139674, 25660391, 9576553		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23408874, 25036107		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	25036107, 38544349	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	25205014		★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	25205014, 27098784	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	CLINVAR_DG	10051520, 10430417, 10644771, 10665666, 10690989, 10737121, 10962018, 11408615, 11840191, 12390967, 12456818, 12661046, 1379744, 15162127, 15311340, 17097617, 17654559, 17932099, 17990293, 18035046, 18220014, 18337100, 18337730, 19697366, 19949657, 20181190, 21045501, 21204798, 21221019, 21387378, 22094069, 22197187, 22346025, 22407275, 22521272, 22649220, 22921319, 22995991, 23097607, 23113340, 23152584, 23225051, 23424641, 23516313, 23739125, 23810313, 23893571, 23933576, 24037712, 24304580, 24349310, 24452722, 24515601, 24530047, 25036107, 25065301, 25438602, 25749817, 26007199, 26021757, 26096614, 26502825, 26633545, 27118449, 27142102, 27199537, 27296017, 27415035, 27580824, 27614575, 28427807, 28706458, 7581380, 7874130, 7951215, 7951242, 7981750, 8112288, 8533761, 8845168, 8857733, 9040760, 9122265, 9158157, 9566422, 9736777		★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	BEFREE	10525982, 10533075, 10644771, 10690989, 11353420, 11840191, 12196568, 12370472, 12488428, 12661046, 14639587, 15116370, 15162127, 15311340, 16629771, 17097617, 17826470, 18263754, 18579381, 18816629, 19185184, 19697366, 19949657, 20120005, 20399394, 21045501, 21385601, 22641783, 22790975, 22921319, 23424641, 23516313, 23739125, 23893571, 23933576, 24349310, 24625573, 25083883, 25088311, 25205014, 25356766, 26007199, 26021757, 26036855, 26096614, 26260254, 26502825, 27022190, 27098784, 27324117, 27415035, 27580824, 27666773, 28427807, 28706458, 28833464, 29424939, 29480456, 29500929, 29606556, 29851785, 29934119, 29935101, 30487393, 30738808, 31022181, 31566103, 7581380, 7951242, 8112288, 8571958, 8857733, 9566422, 9736777		★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	UNIPROT_DG	12661046, 26096614, 27653901, 27666773, 7581380, 7981750, 8112288, 8533761, 8845168, 9122265, 9566422, 9736777		★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	GENOMICS_ENGLAND_DG	17932099, 22649220, 7981750		★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	CTD_human_DG	20399394		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	23408874		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27899419		★☆☆☆☆ Found in Text Mining only
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	GENOMICS_ENGLAND_DG	22649220		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	31772215		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy	Leukoencephalopathy	BEFREE	9576553		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	27199537	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	38544349	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10644771, 10690989, 19185184, 23424641, 26021757, 27580824, 28798690, 30628727		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia	Myotonia	Pubtator	22106717, 22649220, 23097607, 24304580, 25036107, 26096614, 26502825, 27324117, 31772215, 33092578, 33263785, 33670307, 37106355, 37445828, 38544349, 8533761	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia Congenita	Myotonia Congenita	CLINVAR_DG	10430417, 11113225, 11408615, 11840191, 12390967, 12661046, 15241802, 15786415, 17932099, 18337100, 18807109, 21387378, 22094069, 22649220, 23152584, 23417379, 23516313, 23739125, 24349310, 24920213, 26036855, 7581380, 8533761, 8571958, 9040658, 9158157, 9736777		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	BEFREE	10525982, 10533075, 10644771, 10690989, 11840191, 12196568, 12370472, 12488428, 12661046, 14639587, 15116370, 15162127, 15311340, 16629771, 17097617, 17826470, 18263754, 18579381, 19185184, 19697366, 19949657, 20399394, 21045501, 22641783, 22790975, 22921319, 23424641, 23516313, 23739125, 23893571, 23933576, 24349310, 24625573, 25083883, 25088311, 25205014, 25356766, 26007199, 26021757, 26036855, 26096614, 26260254, 26502825, 27022190, 27098784, 27118449, 27324117, 27415035, 27580824, 27666773, 28427807, 28706458, 28833464, 29424939, 29480456, 29500929, 29606556, 29851785, 29934119, 29935101, 30487393, 30738808, 31022181, 31566103, 8112288, 8857733, 9566422, 9736777		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	LHGDN	11840191, 15241802, 16854622, 18220014		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	CTD_human_DG	20399394		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	GENOMICS_ENGLAND_DG	22649220		★☆☆☆☆ Found in Text Mining only
Myotonia Levior	Myotonia Levior	CTD_human_DG	20399394		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia Levior	Myotonia Levior	BEFREE	7581380		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia Levior	Myotonia Levior	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonic Disorders	Myotonic Disorders	BEFREE	7951242		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	11090982, 12150905, 15623702, 18807109, 21204798, 26036855, 26501102, 26510092, 30171561		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	12150906, 17708420, 18807109, 23097607, 29500929, 37445828, 9576553	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	18807109, 26501102		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	LHGDN	14564431		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	BEFREE	25088311		★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	BEFREE	27098784		★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	27098784	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	27098784		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	11090982		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27266866	Associate	★☆☆☆☆ Found in Text Mining only
Thomsen and Becker disease	Thomsen And Becker Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations