DisGeNET - a database of gene-disease associations

Gene: COX6A1 ×

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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:	C0027888
Disease:	Hereditary Motor and Sensory Neuropathies

Hereditary Motor and Sensory Neuropathies

0.200

Biomarker

MGD

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

2014