Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	779
Gene name	Calcium voltage-gated channel subunit alpha1 S
Gene symbol	CACNA1S
Synonyms (NCBI Gene)	CACNL1A3CCHL1A3CMYO18CMYP18Cav1.1DHPRMHOKPPHOKPP1MHS5TTPP1hypoPP
Chromosome	1
Chromosome location	1q32.1
Summary	This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and mal

Show/Hide all (41)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1325310	C>G,T	Benign, risk-factor	Intron variant
rs1800559	C>A,T	Drug-response, risk-factor	Coding sequence variant, missense variant
rs2281845	C>A,G,T	Benign, risk-factor	Upstream transcript variant
rs2297902	G>A,C	Benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs28930068	C>T	Pathogenic	Coding sequence variant, missense variant
rs28930069	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs28986463	T>C	Risk-factor	Intron variant
rs80338777	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80338778	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs80338779	C>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs116347156	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs139956524	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs141204958	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, stop gained, missense variant
rs145910245	T>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs146696298	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148317787	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs201998231	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs267606698	A>T	Pathogenic	Missense variant, coding sequence variant
rs530655602	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs563795648	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs762294904	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs763794604	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs764710968	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs771706267	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs772226819	G>A	Uncertain-significance, drug-response	Missense variant, coding sequence variant
rs797045031	T>C	Pathogenic	Splice acceptor variant
rs1553248947	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553252746	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558056376	C>G,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1558071742	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558075630	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1558079311	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572023336	A>G	Likely-pathogenic	Splice donor variant
rs1572033599	C>T	Likely-pathogenic	Splice donor variant
rs1572035834	C>T	Pathogenic	Coding sequence variant, stop gained
rs1572036396	T>G	Likely-pathogenic	Splice acceptor variant
rs1572038993	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572039465	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1572048220	C>T	Pathogenic	Coding sequence variant, stop gained
rs1572049461	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1572059904	G>C	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029696	hsa-miR-26b-5p	Microarray	19088304
MIRT2192292	hsa-miR-4650-5p	CLIP-seq
MIRT2385456	hsa-miR-1321	CLIP-seq
MIRT2385457	hsa-miR-4419a	CLIP-seq
MIRT2385458	hsa-miR-4510	CLIP-seq
MIRT2385459	hsa-miR-4728-5p	CLIP-seq
MIRT2385460	hsa-miR-4739	CLIP-seq
MIRT2385461	hsa-miR-4756-5p	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0002074	Process	Extraocular skeletal muscle development	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	9852570
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	28012042
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	12080061, 22153077, 25416956, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IDA	11206130
GO:0005886	Component	Plasma membrane	IDA	11206130
GO:0005886	Component	Plasma membrane	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	9852570
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	9852570
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	IMP	17418573, 28012042
GO:0006941	Process	Striated muscle contraction	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007520	Process	Myoblast fusion	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	9852570
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030315	Component	T-tubule	IDA	17204937
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	IMP	28012042
GO:0030315	Component	T-tubule	NAS	27273705
GO:0031674	Component	I band	IDA	11206130
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0036094	Function	Small molecule binding	EXP	18761102, 21525002
GO:0043501	Process	Skeletal muscle adaptation	IEA
GO:0045933	Process	Positive regulation of muscle contraction	NAS	22982493
GO:0046872	Function	Metal ion binding	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	28012042
GO:0055001	Process	Muscle cell development	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	NAS	22982493
GO:0071313	Process	Cellular response to caffeine	ISS
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:0140677	Function	Molecular function activator activity	EXP	18761102, 21525002
GO:1990454	Component	L-type voltage-gated calcium channel complex	ISO
GO:1990454	Component	L-type voltage-gated calcium channel complex	ISS

MIM	HGNC	e!Ensembl
114208	1397	ENSG00000081248

Q13698

Protein name

Voltage-dependent L-type calcium channel subunit alpha-1S (Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle) (Voltage-gated calcium channel subunit alpha Cav1.1)

Protein function

Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skel

PDB

2VAY , 6B27

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	50 → 345	Ion transport protein	Family
PF00520	Ion_trans	431 → 672	Ion transport protein	Family
PF00520	Ion_trans	798 → 1076	Ion transport protein	Family
PF00520	Ion_trans	1117 → 1392	Ion transport protein	Family
PF16905	GPHH	1401 → 1454	Voltage-dependent L-type calcium channel, IQ-associated	Family
PF08763	Ca_chan_IQ	1464 → 1538	Voltage gated calcium channel IQ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Skeletal muscle specific.

Sequence

MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLT
IFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRS
GWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVP
SLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKMHKTCYFIGTDIVATVENE
EPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYW
VNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLD
EDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI
FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEML
MKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGISVLRCIRLLRIFKITK
YWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNF
PQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIA
VDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKL
KIDEFESNVNEVKDPYPSADFPGDDEEDEPEIPLSPRPRPLAELQLKEKAVPIPEASSFF
IFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFT
SVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLR
VLRPLRAINRAKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDL
SKMTEEECRGYYYVYKDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLL
YKAIDSNAEDVGPIYNNRVEMAIFFIIYIILIAFFMMNIFVGFVIVTFQEQGETEYKNCE
LDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMFALIMLNTICLGMQHY
NQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILS
EIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTF
IKSFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEILLACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCP
HRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKR
TSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLR
TIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPP
VMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHV
FSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAP
CQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTL
AADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQ
HQGSQETLIPPRL

Sequence length

1873

Interactions

View interactions

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)

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Pathogenic; Likely pathogenic	rs2102562245, rs200487405	RCV001814470 RCV001814367	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CACNA1S-related disorder	Likely pathogenic; Pathogenic	rs2464503884, rs80338777	RCV003416845 RCV004751219	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Centronuclear myopathy	Pathogenic	rs1660352437, rs1322458975, rs2102135828	RCV004587396 RCV004587472 RCV004587473	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy 18	Likely pathogenic; Pathogenic	rs80338782, rs1663041820, rs1660352437, rs2464546834, rs1322458975, rs1282907317, rs2464536840, rs2102135828, rs2464633669, rs1553254275, rs1351956022, rs28930068, rs80338777, rs1553248947, rs1558056376, rs1558067283, rs80338778 View all (2 more)	RCV005008047 RCV005002953 RCV003222451 RCV003222483 RCV003152508 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypokalemic periodic paralysis	Likely pathogenic	rs80338778	RCV004017781	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis, type 1	Likely pathogenic; Pathogenic	rs2102553716, rs2102151799, rs2102164740, rs1303215579, rs780724976, rs767052156, rs2102154885, rs760082356, rs761239255, rs2102193959, rs2102547896, rs1434902604, rs2102193989, rs2102132473, rs2102144416 View all (65 more)	RCV001377024 RCV001387418 RCV001381206 RCV003771745 RCV002034580 View all (78 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome	Likely pathogenic	rs2464391048	RCV003318432	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant hyperthermia of anesthesia	Likely pathogenic	rs80338782	RCV004017419	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant hyperthermia, susceptibility to	Likely pathogenic	rs2464625113	RCV004556982	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant hyperthermia, susceptibility to, 5	Likely pathogenic; Pathogenic	rs2102553716, rs2102151799, rs2102164740, rs1303215579, rs780724976, rs767052156, rs2102154885, rs760082356, rs761239255, rs2102193959, rs2102547896, rs1434902604, rs2102193989, rs2102132473, rs2102144416 View all (60 more)	RCV001377024 RCV001387418 RCV001381206 RCV003771745 RCV002034580 View all (72 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyrotoxic periodic paralysis, susceptibility to, 1	Likely pathogenic; Pathogenic	rs767052156, rs2102144416, rs80338782, rs1663041820, rs1660352437, rs80338777, rs1553248947, rs1558056376, rs1558067283, rs1572038993, rs1572048220	RCV002479575 RCV002497876 RCV005008047 RCV005002953 RCV005010804 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital nuclear cataract	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
desflurane response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMBRYONAL NUCLEAR CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
enflurane response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
halothane response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary liability to pressure palsies	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
isoflurane response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 5	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant hyperthermia, susceptibility to, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
methoxyflurane response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular atrophy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODIC PARALYSIS WITH TRANSIENT COMPARTMENT-LIKE SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyolysis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sevoflurane response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
skeletal contractures	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
succinylcholine response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROTOXIC PERIODIC PARALYSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Cortical Adenoma	Adrenocortical adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	25430699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17587224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	17587224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	29606556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	33345742, 9132138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	38157055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	9132138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16622521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16622521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	33060286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35220405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	16621918, 21118704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	31227654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	31227654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	28012042, 29193480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	GENOMICS_ENGLAND_DG	28012042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	17223993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	31227654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35590255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	GWASCAT_DG	29364747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11034874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	BEFREE	21841462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	37679049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	39333966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	1326001	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	21841462, 26252573		★★★★★ ★☆☆☆☆ Found in Text Mining only
High-output congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32111194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	37876543, 39333966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	GWASCAT_DG	29364747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia Oligodontia with Orofacial Cleft	Hypodontia Oligodontia With Orofacial Cleft	GWASCAT_DG	29364747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	10599760, 11034874, 11328898, 11591859, 11912116, 12548523, 15711422, 15726306, 17223993, 17418573, 17587224, 18162704, 18229654, 19118277, 19779499 View all (19 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	CTD_human_DG	11912116, 19822448		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	LHGDN	15716625, 15726306, 18229654		★★★★★ ★★★★☆ 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	10599760, 15711422, 15726306, 17333247, 18229654, 19118277, 19779499, 19822448, 21841462, 21845430, 22901280, 26252573, 26433613, 28012042, 29193480, 29606556, 7847370, 8845715, 9066893 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	CLINVAR_DG	10639629, 11034874, 11555352, 11808349, 15716625, 15726306, 17418573, 18162704, 18229654, 19118277, 19225109, 21841462, 23187123, 25213595, 26633545 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	UNIPROT_DG	17418573, 18162704, 19118277, 7987325, 8004673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	GENOMICS_ENGLAND_DG	18835861, 19118277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	1326001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	26176221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	27199537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	9232351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	9232351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Hyperthermia	Malignant hyperthermia	Pubtator	19825159, 25658027, 33564012, 35835312, 36318155, 40262809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	29048924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	24719132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30325262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	29950399, 31227654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing myopathy	Necrotizing myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	GWASCAT_DG	29364747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	31227654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	31380823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	33345742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	BEFREE	15711422, 21841462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodic hypokalemic paresis	Periodic hypokalemic paresis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodic paralysis with transient compartment-like syndrome	Periodic Paralysis With Transient Compartment-Like Syndrome	ORPHANET_DG	24240197		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodic paralysis with transient compartment-like syndrome	Periodic Paralysis With Transient Compartment-Like Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	17223993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CTD_human_DG	19822448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	8646891		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 12 (disorder)	Retinitis Pigmentosa	BEFREE	8646891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	28779239	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16622521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	21926974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	35220405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Second degree atrioventricular block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	BEFREE	12736539, 17223993		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	ORPHANET_DG	15001631		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyrotoxicosis with toxic single thyroid nodule	Thyrotoxicosis with toxic single thyroid nodule	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Familial	Tooth Agenesis	GWASCAT_DG	29364747		★★★★★ ★☆☆☆☆ Found in Text Mining only
TOOTH AGENESIS, SELECTIVE, 9	Tooth Agenesis	GWASCAT_DG	29364747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Selective, With Orofacial Cleft	Tooth Agenesis	GWASCAT_DG	29364747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth development and eruption disorder	Tooth Development And Eruption Disorder	GWASCAT_DG	29364747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic multinodular goiter	Toxic Goiter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	1326001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	21118704		★★★★★ ★☆☆☆☆ Found in Text Mining only

CACNA1S (calcium voltage-gated channel subunit alpha1 S)