PCDH12, protocadherin 12, 51294

N. diseases: 29; N. variants: 6
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. 29556033 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. 27164683 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. 27164683 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Protocadherin 12 deficiency alters morphogenesis and transcriptional profile of the placenta. 18477666 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND