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 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1553190285

1.000

116384802

missense variant

T/G

snv

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

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

0.800

1.000

2018

dbSNP:

rs1553192086

1.000

116395224

missense variant

T/C

snv

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

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

0.800

1.000

2018

dbSNP:

rs1553192091

0.925

0.080

116395247

missense variant

C/A;G

snv

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

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

0.800

1.000

2018

dbSNP:

rs1553192783

1.000

116399068

missense variant

A/C

snv

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

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

0.800

1.000

2018