Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.310 Biomarker GENOMICS_ENGLAND Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.310 Biomarker 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
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.310 Biomarker GENOMICS_ENGLAND Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. 27164683

2016

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.310 Biomarker GENOMICS_ENGLAND Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. 27164683

2016

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.310 Biomarker GENOMICS_ENGLAND Protocadherin 12 deficiency alters morphogenesis and transcriptional profile of the placenta. 18477666

2008

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.310 Biomarker GENOMICS_ENGLAND