Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		Q99758 ATP binding cassette subfamily A member 3 Transporter 7 0.592 0.615 6.6E-08 0.400 None 1.000 17 2 2005 2014
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		P13569 CF transmembrane conductance regulator Ion channel 27 0.424 0.885 2.2E-58 0.100 None 0 2