DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cerebellar Ataxia ×

Gene: PCDH12 ×

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:	51294
Gene Symbol:	PCDH12

PCDH12

CUI:	C0007758
Disease:	Cerebellar Ataxia

Cerebellar Ataxia

0.110

GeneticVariation

CLINVAR

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

2019