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: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.400 limited 0.967 30 0 1986 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.100 None 1.000 10 0 1987 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.010 None 1.000 1 0 1990 1990
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.010 None 1.000 1 0 2005 2005
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
Q16586 sarcoglycan alpha Calcium-binding protein 111 0.592 0.654 2.7E-03 0.010 None 1.000 1 0 2006 2006
Entrez Id: 1636
Gene Symbol: ACE
ACE
P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.010 None 1.000 1 0 2017 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.010 None 1.000 1 0 2018 2018