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: 1080
Gene Symbol: CFTR
CFTR 		P13569 CF transmembrane conductance regulator Ion channel 27 0.424 0.885 2.2E-58 0.200 None 0.933 0 2 2004 2019
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3 		Q9BZS1 forkhead box P3 6 0.368 0.846 0.99 0.140 None 1.000 0 1 2016 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA 		P10253 glucosidase alpha, acid Enzyme 18 0.631 0.577 2.8E-18 0.100 None 1.000 1 1 2015 2015
Entrez Id: 10577
Gene Symbol: NPC2
NPC2 		P61916 NPC intracellular cholesterol transporter 2 9 0.612 0.769 1.8E-03 0.100 None 0 1
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		O60500 NPHS1 adhesion molecule, nephrin 12 0.597 0.615 2.5E-14 0.100 None 0 1
Entrez Id: 6603
Gene Symbol: SMARCD2
SMARCD2 		Q92925 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 Nucleic acid binding 7 0.700 0.385 6.5E-05 0.100 None 0 3
Entrez Id: 7276
Gene Symbol: TTR
TTR 		P02766 transthyretin Transporter 15 0.423 0.885 0.52 0.100 None 0 1