DisGeNET - a database of gene-disease associations

rs121908552, SCN4A;LOC105371858

N. diseases: 14

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Potassium aggravated myotonia

CUI:	C2931826
Disease:	Potassium aggravated myotonia

18

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.810

0.933

1994

2016

Hypokalemic periodic paralysis type 1

CUI:	C3714580
Disease:	Hypokalemic periodic paralysis type 1

24

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.710

1.000

2015

2015

Paramyotonia Congenita (disorder)

CUI:	C0221055
Disease:	Paramyotonia Congenita (disorder)

26

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.710

1.000

2015

2015

Hyperkalemic periodic paralysis

CUI:	C0238357
Disease:	Hyperkalemic periodic paralysis

30

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

1.000

1997

2015

Normokalemic Periodic Paralysis, Potassium-Sensitive

CUI:	C1868433
Disease:	Normokalemic Periodic Paralysis, Potassium-Sensitive

27

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

1.000

1997

2015

Distal sensory impairment

CUI:	C1847584
Disease:	Distal sensory impairment

5

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

EMG: myotonic discharges

CUI:	C4022169
Disease:	EMG: myotonic discharges

3

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

Hypokalemic Periodic Paralysis, Type 2

CUI:	C2750061
Disease:	Hypokalemic Periodic Paralysis, Type 2

15

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

Muscle Weakness

CUI:	C0151786
Disease:	Muscle Weakness

87

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

MYASTHENIC SYNDROME, CONGENITAL, 16

CUI:	C3280112
Disease:	MYASTHENIC SYNDROME, CONGENITAL, 16

10

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

Myotonia Congenita

CUI:	C0027127
Disease:	Myotonia Congenita

38

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

Pain

CUI:	C0030193
Disease:	Pain

196

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

Pain in limb

CUI:	C0030196
Disease:	Pain in limb

5

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.700

Hypokalemic periodic paralysis

CUI:	C0238358
Disease:	Hypokalemic periodic paralysis

19

0.763

0.160

17

63964587

missense variant

C/A;G;T

snv

4.0E-06

0.010

1.000

2015

2015