DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Charcot-Marie-Tooth Disease ×

Gene: COX6A1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1337
Gene Symbol:	COX6A1

COX6A1

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

0.210

Biomarker

MGD

Those data indicated that COX6A1 mutation causes the autosomal-recessive axonal or mixed CMT.

2014