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: 1180
Gene Symbol: CLCN1
CLCN1 		chloride voltage-gated channel 1 0.641 0.423 3.3E-20
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.180 None 1.000 0 1 2000 2019