DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) ×

Variant: rs281865060 ×

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:

rs281865060

GDAP1

CUI:	C1859198
Disease:	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

0.700

CausalMutation

CLINVAR

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

25429913

2014

dbSNP:

rs281865060

GDAP1

CUI:	C1859198
Disease:	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

0.700

CausalMutation

CLINVAR

Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

21965300

2012

dbSNP:

rs281865060

GDAP1

CUI:	C1859198
Disease:	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

0.700

CausalMutation

CLINVAR

A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.

15377708

2004