rs1131691646, PCDH19

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
0.700 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
0.700 CausalMutation CLINVAR Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010