DisGeNET - a database of gene-disease associations

PCCA, propionyl-CoA carboxylase subunit alpha, 5095

N. diseases: 57; N. variants: 61

Disease: Propionic acidemia ×

Variant: rs199604072 ×

Source: ALL

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:

rs199604072

rs199604072

Entrez Id:	5095;105370335;107984575
Gene Symbol:	PCCA;LOC105370335;LOC107984575

PCCA;LOC105370335;LOC107984575

CUI:	C0268579
Disease:

Propionic acidemia

C

0.700

GeneticVariation

CLINVAR