PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Klinefelter's syndrome - male with more than two X chromosomes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.010 Biomarker disease BEFREE Here, we report such evidence: - a male child with KS and PCDH19-related epilepsy - supporting the PCDH19 cellular interference disease hypothesis. 29933145 2018