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: 729238
Gene Symbol: SFTPA2
SFTPA2 		Q8IWL1 surfactant protein A2 1 0.563 0.731 9.3E-03 0.740 None 1.000 0 2 2009 2017
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1 		Q9NZ71 regulator of telomere elongation helicase 1 Enzyme 5 0.459 0.808 8.9E-10 0.630 None 1.000 1 11 2015 2018
Entrez Id: 100533107
Gene Symbol: RTEL1-TNFRSF6B
RTEL1-TNFRSF6B 		RTEL1-TNFRSF6B readthrough (NMD candidate) 5 0.682 0.385 0.100 None 1.000 1 11 2015 2015
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