DisGeNET - a database of gene-disease associations

rs121909345, DCTN1

N. diseases: 4

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 1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

139

0.882

0.120

2

74363337

missense variant

C/T

snv

2.8E-05

2.1E-05

0.700

1.000

2004

2005

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO

CUI:	C4016314
Disease:	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO

5

0.882

0.120

2

74363337

missense variant

C/T

snv

2.8E-05

2.1E-05

0.700

Amyotrophic Lateral Sclerosis

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

485

0.882

0.120

2

74363337

missense variant

C/T

snv

2.8E-05

2.1E-05

0.010

1.000

2005

2005

Frontotemporal dementia

CUI:	C0338451
Disease:	Frontotemporal dementia

215

0.882

0.120

2

74363337

missense variant

C/T

snv

2.8E-05

2.1E-05

0.010

1.000

2005

2005