DisGeNET - a database of gene-disease associations

rs113247976, KIF5A

N. diseases: 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

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.

Amyotrophic Lateral Sclerosis

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

485

1.000

0.080

12

57581917

missense variant

C/G;T

snv

4.0E-06; 1.1E-02

0.700

1.000

2018

2018

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25

CUI:	C4693609
Disease:	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25

8

1.000

0.080

12

57581917

missense variant

C/G;T

snv

4.0E-06; 1.1E-02

0.700