Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		protocadherin 12 0.722 0.346 2.9E-13
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 1.000 1 1 2019 2019