PCDH12, protocadherin 12, 51294

N. diseases: 29; N. variants: 6
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 GeneticVariation phenotype BEFREE Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 GeneticVariation phenotype CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466 2019