DisGeNET - a database of gene-disease associations

ATP1A1, ATPase Na+/K+ transporting subunit alpha 1, 476

N. diseases: 89; N. variants: 12

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

Variant: rs1553192086 ×

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:

rs1553192086

Entrez Id:	476;84852
Gene Symbol:	ATP1A1;ATP1A1-AS1

ATP1A1;ATP1A1-AS1

CUI:	C4747974
Disease:

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

0.800

GeneticVariation

UNIPROT

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

29499166

2018

dbSNP:

rs1553192086

Entrez Id:	476;84852
Gene Symbol:	ATP1A1;ATP1A1-AS1

ATP1A1;ATP1A1-AS1

CUI:	C4747974
Disease:

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

0.800

CausalMutation

CLINVAR