SCN4A (sodium voltage-gated channel alpha subunit 4)

Gene

• Entrez ID: 6329
• Gene name: Sodium voltage-gated channel alpha subunit 4
• Gene symbol: SCN4A
• Synonyms (NCBI Gene): CMS16, CMYO22A, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
• Chromosome: 17
• Chromosome location: 17q23.3
• Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338789	C>T	Pathogenic	Missense variant, coding sequence variant
rs80338790	A>G	Pathogenic	Missense variant, coding sequence variant
rs80338791	C>T	Pathogenic	Missense variant, coding sequence variant
rs80338792	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs80338951	G>A,T	Pathogenic, benign	Stop gained, missense variant, coding sequence variant
rs80338957	G>A	Pathogenic	Missense variant, coding sequence variant
rs80338958	C>A,T	Likely-pathogenic, likely-benign, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs80338959	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs80338960	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80338961	T>A	Pathogenic	Missense variant, coding sequence variant
rs80338962	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908544	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121908545	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121908546	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs121908547	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908548	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908549	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908550	A>C	Pathogenic	Coding sequence variant, missense variant
rs121908551	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121908553	A>T	Pathogenic	Coding sequence variant, missense variant
rs121908554	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908555	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908559	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908560	G>T	Pathogenic	Coding sequence variant, missense variant
rs121908561	T>C	Pathogenic	Coding sequence variant, missense variant
rs148028364	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs189230866	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs191547933	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant
rs199827271	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200947169	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202106192	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs371914255	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs373150395	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374806849	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376833596	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs527236148	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs527236149	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs527236150	C>T	Pathogenic	Coding sequence variant, missense variant
rs750053946	G>A,C	Likely-pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs752135284	CTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs752611838	C>A	Pathogenic	Coding sequence variant, stop gained
rs763893717	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs778820577	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs863225046	C>T	Pathogenic	Missense variant, coding sequence variant
rs867587467	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs879253789	G>A,T	Likely-benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs886041805	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs912001256	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1057518865	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057520846	A>G	Pathogenic	Coding sequence variant, missense variant
rs1057521065	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794243	A>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1064794596	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1064795409	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555601448	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1567816549	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567819905	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567819954	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1597985462	G>T	Pathogenic	Missense variant, coding sequence variant
rs1598405334	A>G	Pathogenic	Missense variant, coding sequence variant
rs1598406692	A>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018528	hsa-miR-335-5p	Microarray	18185580
MIRT622341	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622340	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622339	hsa-miR-1284	HITS-CLIP	23824327
MIRT622338	hsa-miR-3941	HITS-CLIP	23824327
MIRT622337	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT622341	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT622340	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622339	hsa-miR-1284	HITS-CLIP	23824327
MIRT622338	hsa-miR-3941	HITS-CLIP	23824327
MIRT622337	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT1330071	hsa-miR-1224-5p	CLIP-seq
MIRT1330072	hsa-miR-1304	CLIP-seq
MIRT1330073	hsa-miR-2115	CLIP-seq
MIRT1330074	hsa-miR-2467-5p	CLIP-seq
MIRT1330075	hsa-miR-28-5p	CLIP-seq
MIRT1330076	hsa-miR-3139	CLIP-seq
MIRT1330077	hsa-miR-3144-5p	CLIP-seq
MIRT1330078	hsa-miR-3150b-3p	CLIP-seq
MIRT1330079	hsa-miR-3179	CLIP-seq
MIRT1330080	hsa-miR-3188	CLIP-seq
MIRT1330081	hsa-miR-3191	CLIP-seq
MIRT1330082	hsa-miR-3194-5p	CLIP-seq
MIRT1330083	hsa-miR-3202	CLIP-seq
MIRT1330084	hsa-miR-326	CLIP-seq
MIRT1330085	hsa-miR-330-5p	CLIP-seq
MIRT1330086	hsa-miR-377	CLIP-seq
MIRT1330087	hsa-miR-3915	CLIP-seq
MIRT1330088	hsa-miR-3918	CLIP-seq
MIRT1330089	hsa-miR-3975	CLIP-seq
MIRT1330090	hsa-miR-4300	CLIP-seq
MIRT1330091	hsa-miR-4421	CLIP-seq
MIRT1330092	hsa-miR-4476	CLIP-seq
MIRT1330093	hsa-miR-4633-3p	CLIP-seq
MIRT1330094	hsa-miR-4652-5p	CLIP-seq
MIRT1330095	hsa-miR-4667-5p	CLIP-seq
MIRT1330096	hsa-miR-4689	CLIP-seq
MIRT1330097	hsa-miR-4700-5p	CLIP-seq
MIRT1330098	hsa-miR-4723-5p	CLIP-seq
MIRT1330099	hsa-miR-4784	CLIP-seq
MIRT1330100	hsa-miR-483-3p	CLIP-seq
MIRT1330101	hsa-miR-485-5p	CLIP-seq
MIRT1330102	hsa-miR-516a-3p	CLIP-seq
MIRT1330103	hsa-miR-603	CLIP-seq
MIRT1330104	hsa-miR-637	CLIP-seq
MIRT1330105	hsa-miR-708	CLIP-seq
MIRT1330106	hsa-miR-765	CLIP-seq
MIRT1330107	hsa-miR-920	CLIP-seq
MIRT1330108	hsa-miR-939	CLIP-seq
MIRT2097785	hsa-miR-1200	CLIP-seq
MIRT2097786	hsa-miR-3160-3p	CLIP-seq
MIRT2097787	hsa-miR-3180-5p	CLIP-seq
MIRT2097788	hsa-miR-3184	CLIP-seq
MIRT1330083	hsa-miR-3202	CLIP-seq
MIRT2097789	hsa-miR-3622b-5p	CLIP-seq
MIRT2097790	hsa-miR-3668	CLIP-seq
MIRT2097791	hsa-miR-3935	CLIP-seq
MIRT2097792	hsa-miR-423-5p	CLIP-seq
MIRT2097793	hsa-miR-4324	CLIP-seq
MIRT2097794	hsa-miR-4487	CLIP-seq
MIRT2097795	hsa-miR-4685-5p	CLIP-seq
MIRT2097796	hsa-miR-4688	CLIP-seq
MIRT2097797	hsa-miR-4717-5p	CLIP-seq
MIRT2097798	hsa-miR-4731-3p	CLIP-seq
MIRT2097799	hsa-miR-4756-3p	CLIP-seq
MIRT2097800	hsa-miR-4801	CLIP-seq
MIRT2097801	hsa-miR-486-3p	CLIP-seq
MIRT2097802	hsa-miR-544b	CLIP-seq
MIRT2097803	hsa-miR-558	CLIP-seq
MIRT2097804	hsa-miR-576-3p	CLIP-seq
MIRT2097785	hsa-miR-1200	CLIP-seq
MIRT1330075	hsa-miR-28-5p	CLIP-seq
MIRT1330076	hsa-miR-3139	CLIP-seq
MIRT1330078	hsa-miR-3150b-3p	CLIP-seq
MIRT2097789	hsa-miR-3622b-5p	CLIP-seq
MIRT2097790	hsa-miR-3668	CLIP-seq
MIRT2097791	hsa-miR-3935	CLIP-seq
MIRT2322108	hsa-miR-4269	CLIP-seq
MIRT1330093	hsa-miR-4633-3p	CLIP-seq
MIRT2322109	hsa-miR-4645-5p	CLIP-seq
MIRT2322110	hsa-miR-4673	CLIP-seq
MIRT2322111	hsa-miR-4778-3p	CLIP-seq
MIRT1330099	hsa-miR-4784	CLIP-seq
MIRT2097804	hsa-miR-576-3p	CLIP-seq
MIRT1330105	hsa-miR-708	CLIP-seq
MIRT2394093	hsa-miR-1915	CLIP-seq
MIRT2097788	hsa-miR-3184	CLIP-seq
MIRT2097792	hsa-miR-423-5p	CLIP-seq
MIRT2458939	hsa-miR-208a	CLIP-seq
MIRT2458940	hsa-miR-208b	CLIP-seq
MIRT2458941	hsa-miR-4299	CLIP-seq
MIRT2458942	hsa-miR-4432	CLIP-seq
MIRT2458943	hsa-miR-4456	CLIP-seq
MIRT2458944	hsa-miR-4522	CLIP-seq
MIRT2458945	hsa-miR-499-5p	CLIP-seq
MIRT2458946	hsa-miR-548q	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	30190309
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	12766226, 30190309
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	TAS	10218481
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	30190309
GO:0005886	Component	Plasma membrane	IDA	12766226, 30190309
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1659948
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	TAS	10218481
GO:0006936	Process	Muscle contraction	TAS	1338909
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	12766226, 30190309
GO:0055085	Process	Transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0100001	Process	Regulation of skeletal muscle contraction by action potential	IMP	12766226

Other IDs

• MIM: 603967
• HGNC: 10591
• e!Ensembl: ENSG00000007314

Protein

• UniProt ID: P35499
• Protein name: Sodium channel protein type 4 subunit alpha (SkM1) (Sodium channel protein skeletal muscle subunit alpha) (Sodium channel protein type IV subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.4)
• Protein function: Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s
• PDB: 6AGF, 6MBA, 6MC9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	130 → 458	Ion transport protein	Family
  PF00520	Ion_trans	577 → 810	Ion transport protein	Family
  PF06512	Na_trans_assoc	816 → 1026	Sodium ion transport-associated	Family
  PF00520	Ion_trans	1030 → 1306	Ion transport protein	Family
  PF00520	Ion_trans	1352 → 1609	Ion transport protein	Family

• Sequence:

  MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEA
  GKNLPMIYGDPPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVV
  RRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARG
  FCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFRVLRALKTITVIPGLKTIV
  GALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTW
  YGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLC
  GNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG
  KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQE
  ELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEA
  HQKCPPWWYKCAHKVLIWNCCAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHY
  PMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPYEYFQQGWNIFDSIIVTLSLVELGLA
  NVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQ
  LFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCMEVAGQAMCLT
  VFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFL
  LGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLA
  DGPPSSLELDHLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDG
  NSSVCSTADYKPPEEDPEEQAEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTL
  RRACFKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRRVIRTILEYADKVFTYIFIMEM
  LLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYSELGPIKSLRTLRALRPLRAL
  SRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDI
  SEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKE
  EQPQYEVNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYY
  NAMKKLGSKKPQKPIPRPQNKIQGMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQL
  KVDILYNINMIFIIIFTGECVLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKY
  FVSPTLFRVIRLARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFG
  MSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENP
  GTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILENFNVATEESSEPLGEDDFEMF
  YETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL
  FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRR
  HLLQRSMKQASYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGD
  AGPTMGLMPISPSDTAWPPAPPPGQTVRPGVKESLV

• Sequence length: 1836

Pathways

Reactome:

Phase 0 - rapid depolarisation

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	rs121908556	RCV001813957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acetazolamide-responsive myotonia	Pathogenic; Likely pathogenic	rs80338788, rs121908559	RCV003387718 RCV003323353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic	rs1597978607	RCV000855486	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome	Pathogenic	rs121908553	RCV000235023	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome 16	Pathogenic; Likely pathogenic	rs1909597270, rs777998706, rs121908545, rs121908547, rs121908553, rs121908557, rs1908668408, rs1598406692	RCV001335258 RCV002289116 RCV003483425 RCV003455986 RCV000006277 RCV003147276 RCV003447706 RCV000995862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myopathy	Likely pathogenic; Pathogenic	rs1567819905	RCV003458169	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy 22A, classic	Pathogenic; Likely pathogenic	rs80338962, rs80338792, rs1287863349, rs2509290730, rs2509318035, rs780703403, rs1235665641	RCV005417418 RCV005428990 RCV004796779 RCV003227546 RCV003227550 RCV003227493 RCV004782530	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myopathy 22B, severe fetal	Pathogenic; Likely pathogenic	rs933258893, rs2509317969, rs2509284285, rs2509285379, rs2509289236	RCV003227973 RCV003227547 RCV003227549 RCV003315479 RCV003315480	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delayed gross motor development	Pathogenic	rs121908545	RCV001775065	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1597978607	RCV000855486	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal-onset seizure	Likely pathogenic; Pathogenic	rs80338958	RCV001004616	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperkalemic periodic paralysis	Pathogenic; Likely pathogenic	rs749400108, rs933258893, rs2144773878, rs865887222, rs2144782598, rs778746718, rs2144786506, rs121908544, rs1331907655, rs943370469, rs1908594231, rs759347899, rs527236148, rs527236150, rs775244273, rs80338956, rs1909453191, rs2509308046, rs2509314301, rs774304336, rs80338957, rs80338962, rs121908545, rs80338958, rs121908546, rs121908556, rs80338792, rs121908547, rs121908548, rs121908549, rs121908551, rs121908552, rs80338784, rs80338788, rs80338785, rs121908555, rs121908557, rs121908559, rs2509285055, rs2509318698, rs2509293167, rs864622785, rs1567818091, rs1287863349, rs886041805, rs1555603671, rs2509313987, rs2509291040, rs2509287979, rs557322255, rs2509285308, rs2509315709, rs1358028812, rs80338955, rs80338789, rs80338959, rs80338960, rs750053946, rs1057521065, rs1064794243, rs1064795409, rs1555601448, rs780703403, rs1555600605, rs763893717, rs1567816549, rs771340029, rs1567817380, rs1567816461, rs1199222144, rs1235665641, rs774453167, rs1598405334, rs1567819905, rs1597985462, rs1908593639, rs1908916380, rs897448432, rs1909519361, rs1909650741, rs772873287, rs1909596551, rs377176361, rs1224997537	RCV001370510 RCV001387955 RCV003505180 RCV003772220 RCV001937133 RCV001923562 RCV001919623 RCV002007313 RCV001994875 RCV001949486 RCV002033630 RCV002049401 RCV000654671 RCV000797599 RCV002629991 RCV002625765 RCV002675664 RCV002780305 RCV002820030 RCV002835364 RCV000006254 RCV000006256 RCV000206951 RCV000206992 RCV000020271 RCV003505081 RCV000206954 RCV000690377 RCV000540455 RCV000800365 RCV003505082 RCV000525753 RCV000654659 RCV000544236 RCV000206926 RCV000206975 RCV000206901 RCV000206986 RCV001210018 RCV000206909 RCV000206996 RCV000552020 RCV001046179 RCV000020266 RCV002903519 RCV003039258 RCV003040989 RCV000206910 RCV000207008 RCV003615927 RCV003505299 RCV005090333 RCV003505432 RCV003505490 RCV003506043 RCV003506304 RCV003506587 RCV003616069 RCV003616908 RCV003616945 RCV003880080 RCV000206949 RCV000020265 RCV000692011 RCV000020272 RCV000020273 RCV000821671 RCV001861506 RCV000654650 RCV001061560 RCV001856911 RCV000545880 RCV000559054 RCV000557400 RCV000654653 RCV000698645 RCV000685540 RCV000692303 RCV000699036 RCV001048956 RCV000804436 RCV001862125 RCV000795668 RCV000810571 RCV000819512 RCV000799405 RCV000813734 RCV001053370 RCV001055563 RCV001046074 RCV001056914 RCV001053727 RCV001198055 RCV001197972 RCV001217902 RCV001214233 RCV001225646	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypokalemic periodic paralysis	Likely pathogenic; Pathogenic	rs80338785	RCV003493408	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis, type 1	Pathogenic	rs527236150, rs121908544, rs80338785	RCV002305449 RCV001813736 RCV000020262	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis, type 2	Likely pathogenic; Pathogenic	rs2144774834, rs527236148, rs527236150, rs80338957, rs121908544, rs121908545, rs80338792, rs121908548, rs80338784, rs80338788, rs80338785, rs121908555, rs121908557, rs80338789, rs1287863349, rs377176361	RCV001808879 RCV000132735 RCV000132737 RCV002291266 RCV003989102 RCV003483425 RCV005428990 RCV001849259 RCV001535772 RCV000006274 RCV000006275 RCV000006276 RCV000006279 RCV000006280 RCV003335018 RCV002307367 RCV000043510 RCV001090156 RCV003229884	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular channelopathy	Likely pathogenic; Pathogenic	rs865887222	RCV003994333	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic	rs121908557	RCV000543491	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia congenita, atypical, acetazolamide-responsive	Pathogenic	rs121908549	RCV000006269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia fluctuans	Likely pathogenic; Pathogenic	rs121908546, rs80338792	RCV001799586 RCV001799587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia permanens	Pathogenic	rs80338792	RCV001799588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Normokalemic periodic paralysis, potassium-sensitive	Likely pathogenic; Pathogenic	rs121908556, rs121908557	RCV000006263 RCV000006281 RCV000006282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paramyotonia congenita of Von Eulenburg	Likely pathogenic; Pathogenic	rs2144793242, rs121908544, rs121908545, rs121908556, rs80338792, rs121908547, rs121908548, rs121908550, rs121908551, rs80338788, rs121908554, rs121908559, rs121908560, rs80338956, rs121908561, rs2509285181, rs1064794243, rs80338955, rs377176361	RCV001374643 RCV000006258 RCV000006259 RCV001254163 RCV000006264 RCV000006266 RCV000006268 RCV000006270 RCV001535772 RCV000006272 RCV004798719 RCV000006278 RCV002225070 RCV000006284 RCV003996078 RCV000006286 RCV000006287 RCV003313329 RCV002289626 RCV001807649 RCV001564044	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paramyotonia congenita/hyperkalemic periodic paralysis	Likely pathogenic; Pathogenic	rs80338957, rs80338962, rs80338958, rs121908560	RCV000006255 RCV000006257 RCV000006260 RCV000006285	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paramyotonia congenita/myotonia congenita	Likely pathogenic; Pathogenic	rs121908546	RCV000006261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Potassium-aggravated myotonia	Pathogenic; Likely pathogenic	rs121908545, rs80338958, rs80338792, rs121908548, rs121908552, rs2509291006, rs914586984	RCV002288469 RCV004595874 RCV000006265 RCV000006267 RCV001535772 RCV000006273 RCV001823093 RCV003224970 RCV000754616	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyolysis	Pathogenic	rs121908545	RCV000662289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN4A-related channelopathy	Likely pathogenic; Pathogenic	rs80338792	RCV005249982	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN4A-related disorder	Likely pathogenic; Pathogenic	rs527236148, rs80338957, rs121908545, rs80338958, rs80338792, rs121908547, rs121908551, rs2509305424, rs2509324687, rs2509325722, rs121908552, rs1598405334	RCV004532585 RCV004532296 RCV004734499 RCV004545720 RCV005867727 RCV004532297 RCV000509130 RCV004545852 RCV004529700 RCV004528763 RCV004527624 RCV004545804	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SCN4A-related myopathy, autosomal recessive	Pathogenic	rs121908547, rs80338792	RCV004786239 RCV004786240	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN4A-related non-dystrophic myotonia	Likely pathogenic; Pathogenic	rs2144773503, rs1908691206, rs2144779553, rs121908545, rs80338792, rs121908547, rs121908550, rs121908552, rs80338956, rs763893717	RCV002267664 RCV002267666 RCV002267667 RCV002267600 RCV002267601 RCV002267602 RCV002267603 RCV002267604 RCV002267605 RCV002267623	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal muscle channelopathy	Pathogenic	rs121908551, rs80338789	RCV006250154 RCV005644489	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sotos syndrome	Likely pathogenic; Pathogenic	rs80338957	RCV003231090	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Batten-Turner congenital myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndrome, Recessive	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myotonia, autosomal dominant form	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal sensory impairment	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
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Handgrip myotonia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 17	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb pain	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE ORGAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle weakness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 16	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pain	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYSIS, HYPERKALEMIC PERIODIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAMYOTONIA CONGENITA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGEN MYASTHENIC SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe neonatal hypotonia improving with age	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal myopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tremor, hereditary essential, 6	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Cortical Adenoma	Adrenocortical adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	33389921	Associate	★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	21665479		★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	33345742	Associate	★☆☆☆☆ Found in Text Mining only
Apnea	Apnea	Pubtator	29605429	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	26036855, 30944319, 33263785	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG	15596759, 19065518		★☆☆☆☆ Found in Text Mining only
Becker Generalized Myotonia	Congenital myotonia	CTD_human_DG	1316765		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	15774523, 26036855	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	26036855		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG	15596759, 19065518		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35401884	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	33263785	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	31609695	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	33389921	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	CTD_human_DG	12766226		★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	CTD_human_DG	12766226		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	26700687		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	GENOMICS_ENGLAND_DG	26700687		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	35866763	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28262468		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	19290024	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG	15596759, 19065518		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	28012096		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	28012096	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	31772215	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	29696773	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35866763	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	25660391, 30038349		★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	38255008	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26285000		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	33912281	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11118488, 29605429, 29774303, 38544349	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26427606		★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	38544349	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	26427606		★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eyelid Diseases	Eyelid disease	Pubtator	19876661, 35644941	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	BEFREE	11118488, 11309455, 15596759, 19290024, 21412952, 21841462, 25311598, 25348630, 26036855, 26700687, 30931713		★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	LHGDN	12210802		★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	28330959	Associate	★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	15774523	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	BEFREE	12370472, 1379356, 25088311, 26036855, 29111379		★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	CTD_human_DG	1316765		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	26494408	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG	15596759, 19065518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gross motor development delay	Developmental delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	15774523, 29605429	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	1338909, 21841462, 26252573, 9508059		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29509900		★☆☆☆☆ Found in Text Mining only
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	CLINVAR_DG	10218481, 10366610, 10381583, 10599760, 10944223, 11102465, 11558801, 11591859, 11744749, 11757950, 11912116, 11971097, 12562902, 1310898, 1316765, 1338909, 14504341, 14518676, 15482957, 15557532, 15596759, 15642860, 15645704, 15790667, 16392038, 1659668, 1659948, 16801039, 16832098, 16890191, 17212350, 17330043, 17334961, 17395131, 17823953, 18046642, 18162704, 18166706, 18337100, 18337730, 18824591, 19015492, 19052238, 19065518, 19077043, 19118277, 19225109, 19770477, 19840739, 19882638, 20038812, 20076800, 20445432, 20660662, 20713951, 21189962, 21220685, 21490317, 21665479, 21841462, 21881211, 22094069, 22106717, 22253644, 22253645, 22653516, 22914841, 22926674, 23019082, 23516313, 23771340, 23801527, 23810313, 24549961, 24682880, 24714718, 24939454, 24943082, 25024265, 25088311, 25213595, 25311598, 25724373, 25755818, 25839108, 26080010, 26252573, 26256659, 2649440, 26834636, 26885337, 26944947, 27199537, 27415035, 27486940, 29111379, 29419865, 7473241, 7676326, 7809121, 7980103, 8005599, 8044656, 8110459, 8242056, 8308722, 8580427, 8619545, 8902732, 8910215, 9131651, 9339683, 9392583, 9508833, 9660885, 9771789		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	BEFREE	10369308, 10930446, 12210802, 12933953, 1315122, 1315496, 1338909, 16193245, 1659668, 1659948, 22257501, 22617007, 22926674, 27714768, 28012096, 29606556, 29907477, 30172468, 30931713, 8044656, 8388676, 9131651, 9138567, 9508059, 9703181		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	GENOMICS_ENGLAND_DG	15534250, 1659948, 19015483, 26700687		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	UNIPROT_DG	15596759, 1659668, 1659948, 18046642, 20076800, 20522878		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	CTD_human_DG	1659948		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	ORPHANET_DG	17395131		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	LHGDN	18726720		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperkalemic Periodic Paralysis Type 2	Hyperkalemic Periodic Paralysis	CTD_human_DG	1659948		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	30420713	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	26494408	Associate	★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	11353725, 11591859, 11912116, 14557559, 15072700, 15645704, 17418573, 18162704, 19118277, 20634695, 21841462, 25088161, 25213595, 25839108, 26252573, 31567646		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	CTD_human_DG	11912116		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	LHGDN	15482957, 15596759		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	GENOMICS_ENGLAND_DG	15534250		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	BEFREE	15072700, 19118277, 21841462, 25839108, 26252573, 31567646		★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic Periodic Paralysis, Type 2	Hypokalemic Periodic Paralysis	UNIPROT_DG	10599760, 10851391, 10944223, 11558801, 11591859, 16890191, 17898326, 18162704, 19118277, 20522878, 21043388, 24549961		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypokalemic Periodic Paralysis, Type 2	Hypokalemic Periodic Paralysis	BEFREE	16890191, 28012096, 30931713		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypokalemic Periodic Paralysis, Type 2	Hypokalemic Periodic Paralysis	GENOMICS_ENGLAND_DG	19015483, 26700687		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypokalemic Periodic Paralysis, Type 2	Hypokalemic Periodic Paralysis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypokalemic Periodic Paralysis, Type 2	Hypokalemic Periodic Paralysis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	BEFREE	23958773, 25311598, 29605429		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24074450, 26002042, 27479651, 29938681, 30779089		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	27199537	Stimulate	★☆☆☆☆ Found in Text Mining only
Long QT syndrome type 3	Long qt syndrome	Pubtator	15774523	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	38255008	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Hyperthermia	Malignant hyperthermia	Pubtator	10930446	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32892029	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	24074450		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	22617007		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 16	Myasthenic Syndrome	UNIPROT_DG	12766226, 25707578, 26659129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 16	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	15534250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 16	Myasthenic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	12766226, 25707578, 26659129, 29605429, 31609695, 35670010	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CLINVAR_DG	12766226, 26659129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CTD_human_DG	12766226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	15367858, 16193245, 22617007, 25311598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	CTD_human_DG	12766226		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22577154, 24074450, 28094938, 29035583, 29124072, 29749435, 30779089, 8136267, 8580805		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	8580805		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	38544349	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10366610, 10369308, 19290024		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG	15596759, 19065518		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia	Myotonia	Pubtator	10366610, 11118488, 14617673, 15774523, 17898326, 21412952, 22250216, 24843232, 24939454, 26494408, 27164696, 28012096, 29605429, 29774303, 30038349, 31609695, 31772215, 33670307, 38427496, 38544349, 8308722	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonia Congenita	Myotonia Congenita	BEFREE	12370472, 25088311, 26036855, 29111379		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	CTD_human_DG	1316765		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	22653516, 29605429, 31609695, 32407401, 32619119	Associate	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE	Myotonia Congenita	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia fluctuans	Myotonia Fluctuans	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonia Fluctuans (disorder)	Myotonia Fluctuans	ORPHANET_DG	7980103, 8308722		★☆☆☆☆ Found in Text Mining only
Myotonia Fluctuans (disorder)	Myotonia Fluctuans	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myotonia Levior	Myotonia Levior	CTD_human_DG	1316765		★☆☆☆☆ Found in Text Mining only
Myotonia permanens	Myotonia Permanens	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myotonic Disorders	Myotonic Disorders	LHGDN	17823953		★☆☆☆☆ Found in Text Mining only
Myotonic Disorders	Myotonic Disorders	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	11090982, 22581547, 26036855		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	28330959, 30038349	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG	15596759, 19065518		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	1315122, 16193245, 25311598, 25735906, 31732390		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular disease	Pubtator	1315122	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Normokalemic Periodic Paralysis, Potassium-Sensitive	Normokalemic Periodic Paralysis	CLINVAR_DG	10218481, 10366610, 10381583, 10599760, 10944223, 11102465, 11558801, 11591859, 11744749, 11757950, 11912116, 11971097, 12562902, 1310898, 1316765, 1338909, 14504341, 14518676, 15482957, 15557532, 15596759, 15642860, 15645704, 15790667, 16392038, 1659668, 1659948, 16801039, 16832098, 16890191, 17212350, 17330043, 17334961, 17395131, 17823953, 18046642, 18162704, 18166706, 18337100, 18337730, 18824591, 19015492, 19052238, 19065518, 19077043, 19118277, 19225109, 19770477, 19840739, 19882638, 20038812, 20076800, 20445432, 20660662, 20713951, 21189962, 21220685, 21490317, 21665479, 21841462, 21881211, 22094069, 22106717, 22253644, 22253645, 22653516, 22914841, 22926674, 23019082, 23516313, 23771340, 23801527, 23810313, 24549961, 24682880, 24714718, 24939454, 24943082, 25024265, 25088311, 25213595, 25311598, 25724373, 25755818, 25839108, 26080010, 26252573, 26256659, 2649440, 26834636, 26885337, 26944947, 27199537, 27415035, 27486940, 29111379, 29419865, 7473241, 7676326, 7809121, 7980103, 8005599, 8044656, 8110459, 8242056, 8308722, 8580427, 8619545, 8902732, 8910215, 9131651, 9339683, 9392583, 9508833, 9660885, 9771789		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Normokalemic Periodic Paralysis, Potassium-Sensitive	Normokalemic Periodic Paralysis	BEFREE	15596759		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus Pathologic	Nystagmus	Pubtator	25707578	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	29774303	Associate	★☆☆☆☆ Found in Text Mining only
Paradoxical myotonia	Paradoxical myotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	15774523, 28940424, 30420713	Associate	★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	10930446, 12933953, 1315122, 25707578, 26494408, 28012096, 29391559, 30420713, 32962503, 33345742	Associate	★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	BEFREE	10369308, 10534266, 12390967, 12483017, 12552059, 12933953, 1310898, 1315122, 1315496, 1338909, 14617673, 16624558, 16801039, 18166706, 18203179, 19077043, 21220685, 21665479, 23516313, 25088311, 25311598, 25839108, 27415035, 29111379, 29606556, 30931713, 31382107, 8005599, 8044656, 8388676, 8580427, 9131651, 9196904		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	UNIPROT_DG	10369308, 10727489, 1310898, 1316765, 1338909, 15318338, 15790667, 16786525, 18166706, 18690054, 19077043, 20076800, 8242056, 8308722, 8388676, 8580427		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	ORPHANET_DG	10369308		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	GENOMICS_ENGLAND_DG	19015483, 26700687		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Paramyotonia congenita of Von Eulenburg	Paramyotonia Congenita Of Von Eulenburg	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paramyotonia Congenita Without Cold Paralysis	Paramyotonia Congenita Without Cold Paralysis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA	Paramyotonia Congenita/Myotonia Congenita	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARIETAL FORAMINA	Parietal Foramina	BEFREE	16386935, 21841462		★☆☆☆☆ Found in Text Mining only
Periodic hypokalemic paresis	Periodic hypokalemic paresis	HPO_DG			★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	BEFREE	11118488, 11309455, 15596759, 19290024, 21412952, 25311598, 25348630, 26036855, 26700687, 30931713		★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	15642860		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	23821303	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	15642860		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	11090982		★☆☆☆☆ Found in Text Mining only
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	31732390		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	29774303	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	28779239	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	GWASDB_DG	22440650		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33912281	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36389709	Inhibit	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	22653516		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	22653516	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	19103989, 22722661		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	17917308		★☆☆☆☆ Found in Text Mining only
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	BEFREE	15645704		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	9392583		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32380650	Inhibit	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	22722661		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG	15596759, 19065518		★☆☆☆☆ Found in Text Mining only