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: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1