DisGeNET - a database of gene-disease associations

SCN4A, sodium voltage-gated channel alpha subunit 4, 6329

N. diseases: 202; N. variants: 58

Disease: Hypokalemic Periodic Paralysis, Type 2 ×

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:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

24549961

2014

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.

24549961

2014

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

20522878

2010

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.

21043388

2010

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

20522878

2010

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.

21043388

2010

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

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

19118277

2009

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

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

19118277

2009

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

17898326

2008

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

17898326

2008

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

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

18162704

2007

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

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

18162704

2007

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2.

16890191

2006

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

BEFREE

The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2.

16890191

2006

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

BEFREE

The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2.

16890191

2006

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

The unitary Na+ conductance remained normal in R1132Q and in R672S mutants, and cannot therefore account for the reduction of Na+ current presumed in hypoPP2.

16890191

2006

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

11591859

2001

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

11558801

2001

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

11591859

2001

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

11558801

2001

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

10944223

2000

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.

10851391

2000

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.

10851391

2000

dbSNP:

rs80338789

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

10944223

2000

dbSNP:

rs80338785

Entrez Id:	6329;105371858
Gene Symbol:	SCN4A;LOC105371858

SCN4A;LOC105371858

CUI:	C2750061
Disease:

Hypokalemic Periodic Paralysis, Type 2

0.810

GeneticVariation

UNIPROT

A novel sodium channel mutation in a family with hypokalemic periodic paralysis.

10599760

1999