DisGeNET - a database of gene-disease associations

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD, C4747974

Source: ALL

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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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553190285

ATP1A1

0.800

GeneticVariation

UNIPROT

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

29499166

2018

dbSNP:

rs1553192086

ATP1A1 ; ATP1A1-AS1

0.800

GeneticVariation

UNIPROT

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

29499166

2018

dbSNP:

rs1553192091

ATP1A1 ; ATP1A1-AS1

0.800

GeneticVariation

UNIPROT

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

29499166

2018

dbSNP:

rs1553192783

ATP1A1 ; ATP1A1-AS1

0.800

GeneticVariation

UNIPROT

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

29499166

2018

dbSNP:

rs1553190285

ATP1A1

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553192086

ATP1A1 ; ATP1A1-AS1

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553192091

ATP1A1 ; ATP1A1-AS1

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553192091

ATP1A1 ; ATP1A1-AS1

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553192783

ATP1A1 ; ATP1A1-AS1

0.800

CausalMutation

CLINVAR