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:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0003811
Disease:

Cardiac Arrhythmia

0.010

GeneticVariation

BEFREE

Cardiac dysrhythmias co-segregated with hypoKPP in one small kindred with the R528H mutation.

9132138

1997

dbSNP:

rs184837031

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0523953
Disease:

Cardiac troponin T measurement

0.700

GeneticVariation

GWASCAT

Cardiac Troponin T and Troponin I in the General Population.

31014085

2019

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0264886
Disease:

Conduction disorder of the heart

0.010

GeneticVariation

BEFREE

Cardiac dysrhythmias co-segregated with hypoKPP in one small kindred with the R528H mutation.

9132138

1997

dbSNP:

rs1800559

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0009917
Disease:

Contracture

0.010

GeneticVariation

BEFREE

This Arg1086His mutation was screened for in 154 MH normal (MHN) individuals and 112 MH susceptible (MHS) individuals, who were diagnosed by the North American protocol of the in vitro contracture test.

11260227

2001

dbSNP:

rs3850625

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0201976
Disease:

Creatinine measurement, serum (procedure)

0.700

GeneticVariation

GWASCAT

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

28452372

2017

dbSNP:

rs3850625

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0201976
Disease:

Creatinine measurement, serum (procedure)

0.700

GeneticVariation

GWASCAT

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

26831199

2016

dbSNP:

rs4498834

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0399352
Disease:

Developmental absence of tooth

0.700

GeneticVariation

GWASCAT

Rare and Common Variants Conferring Risk of Tooth Agenesis.

29364747

2018

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0030443
Disease:

Familial Periodic Paralysis

0.010

GeneticVariation

BEFREE

Only one SPP patient had a de novo mutation (R528H).

15711422

2005

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C4025238
Disease:

Generalized morning stiffness

0.700

CausalMutation

CLINVAR

dbSNP:

rs3850625

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

dbSNP:

rs3850625

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

31015462

2019

dbSNP:

rs3850625

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

28452372

2017

dbSNP:

rs3850625

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

26831199

2016

dbSNP:

rs3850625

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

30604766

2019

dbSNP:

rs4498834

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0020608
Disease:

Hypodontia

0.700

GeneticVariation

GWASCAT

Rare and Common Variants Conferring Risk of Tooth Agenesis.

29364747

2018

dbSNP:

rs4498834

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C1970118
Disease:

Hypodontia Oligodontia with Orofacial Cleft

0.700

GeneticVariation

GWASCAT

Rare and Common Variants Conferring Risk of Tooth Agenesis.

29364747

2018

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0238358
Disease:

Hypokalemic periodic paralysis

0.750

GeneticVariation

BEFREE

Moreover, for the first time, we detected de novo Arg528His mutations in two out of three families with hypoPP.

11328898

2001

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0238358
Disease:

Hypokalemic periodic paralysis

0.750

CausalMutation

CLINVAR

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0238358
Disease:

Hypokalemic periodic paralysis

0.750

GeneticVariation

BEFREE

Cardiac dysrhythmias co-segregated with hypoKPP in one small kindred with the R528H mutation.

9132138

1997

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0238358
Disease:

Hypokalemic periodic paralysis

0.750

GeneticVariation

BEFREE

The calcium channel gene CACNA1S showed a mutation encoding p.R528H, which has been related previously to HypoPP.

17587224

2008

dbSNP:

rs80338777

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0238358
Disease:

Hypokalemic periodic paralysis

0.750

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:	C0238358
Disease:

Hypokalemic periodic paralysis

0.750

GeneticVariation

BEFREE

Cases were confirmed genetically (13 with an R528H mutation in CACNA1S, 1 an R669H mutation in SCN4A) or had a convincing clinical diagnosis of HypoPP (13 genetically undetermined) if reported prior to the availability of genetic testing.

25088161

2014

dbSNP:

rs80338778

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0238358
Disease:

Hypokalemic periodic paralysis

0.740

GeneticVariation

BEFREE

This study identifies a novel Arg528Gly mutation in the CACNA1S gene that causes HypoPP in a Chinese family, expands the spectrum of mutations causing HypoPP, and demonstrates a gender difference in the penetrance of the disease.

15726306

2005

dbSNP:

rs80338778

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0238358
Disease:

Hypokalemic periodic paralysis

0.740

CausalMutation

CLINVAR

dbSNP:

rs80338778

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C0238358
Disease:

Hypokalemic periodic paralysis

0.740

GeneticVariation

BEFREE

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.

19822448

2010