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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.110 None 1.000 1 2 2017 2017