Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019