DisGeNET - a database of gene-disease associations

CACNA1S, calcium voltage-gated channel subunit alpha1 S, 779

N. diseases: 118; N. variants: 22

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

GeneticVariation

UNIPROT

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

19118277

2009

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

CausalMutation

CLINVAR

The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

18162704

2007

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

GeneticVariation

UNIPROT

Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.

17418573

2007

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

GeneticVariation

BEFREE

Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.

18229654

2007

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

CausalMutation

CLINVAR

Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.

18229654

2007

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

GeneticVariation

UNIPROT

The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

18162704

2007

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

GeneticVariation

BEFREE

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

15716625

2005

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

CausalMutation

CLINVAR

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

15716625

2005

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

CausalMutation

CLINVAR

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

8004673

1994

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

GeneticVariation

UNIPROT

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

8004673

1994

dbSNP:

rs28930069

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.820

GeneticVariation

UNIPROT

A calcium channel mutation causing hypokalemic periodic paralysis.

7987325

1994

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

CausalMutation

CLINVAR

A calcium channel mutant mouse model of hypokalemic periodic paralysis.

23187123

2012

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

GeneticVariation

UNIPROT

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

19118277

2009

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

GeneticVariation

UNIPROT

The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

18162704

2007

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

GeneticVariation

UNIPROT

Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.

17418573

2007

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

CausalMutation

CLINVAR

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.

15726306

2005

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

CausalMutation

CLINVAR

[A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree].

11808349

2001

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

CausalMutation

CLINVAR

Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.

11034874

2000

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

CausalMutation

CLINVAR

Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H)

9512357

1998

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

CausalMutation

CLINVAR

Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H.

9852570

1998

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

CausalMutation

CLINVAR

Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.

9066893

1997

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

GeneticVariation

BEFREE

In three families with hypokalemic periodic paralysis (HOPP) we have confirmed the presence of a missense mutation (arginine 528 to histidine) within the gene CACNL1A3 encoding the alpha 1 subunit of the L-type, voltage-sensitive calcium channel.

8845715

1996

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

0.810

CausalMutation

CLINVAR

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells.

8605978

1996