DisGeNET - a database of gene-disease associations

Gene: ACO2 ×

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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:	50
Gene Symbol:	ACO2

ACO2

CUI:	C3281192
Disease:	INFANTILE CEREBELLAR-RETINAL DEGENERATION

INFANTILE CEREBELLAR-RETINAL DEGENERATION

0.740

GermlineCausalMutation

ORPHANET

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

2012