DisGeNET - a database of gene-disease associations

ACBD5, acyl-CoA binding domain containing 5, 91452

N. diseases: 7; N. variants: 1

Disease: Peroxisomal Disorders ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0282528
Disease:	Peroxisomal Disorders

Peroxisomal Disorders

0.010

Biomarker

group

BEFREE

Our study reclassifies ACBD5-related phenotype as a novel peroxisomal disorder.

2017