DisGeNET - a database of gene-disease associations

rs1553192091, ATP1A1;ATP1A1-AS1

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.

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD

CUI:	C4747974
Disease:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD

4

0.925

0.080

1

116395247

missense variant

C/A;G

snv

0.800

1.000

2018

2018

Charcot-Marie-Tooth Disease

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

136

0.925

0.080

1

116395247

missense variant

C/A;G

snv

0.010

1.000

2019

2019