DisGeNET - a database of gene-disease associations

Epilepsy, C0014544

Gene: PCDH12 ×

Source: CURATED ×

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	51294
Gene Symbol:	PCDH12

PCDH12

0.310

Biomarker

disease

GENOMICS_ENGLAND

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

30459466

2019

Entrez Id:	51294
Gene Symbol:	PCDH12

PCDH12

0.310

Biomarker

disease

GENOMICS_ENGLAND

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.

29556033

2018

Entrez Id:	51294
Gene Symbol:	PCDH12

PCDH12

0.310

Biomarker

disease

GENOMICS_ENGLAND

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

27164683

2016

Entrez Id:	51294
Gene Symbol:	PCDH12

PCDH12

0.310

Biomarker

disease

GENOMICS_ENGLAND

Protocadherin 12 deficiency alters morphogenesis and transcriptional profile of the placenta.

18477666

2008

Entrez Id:	51294
Gene Symbol:	PCDH12

PCDH12

0.310

Biomarker

disease

GENOMICS_ENGLAND