PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691646
rs1131691646
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		TG 0.700 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
dbSNP: rs1131691646
rs1131691646
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		TG 0.700 CausalMutation CLINVAR Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010