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: 5009
Gene Symbol: OTC
OTC
P00480 ornithine carbamoyltransferase 135 0.565 0.846 0.87 1.000 definitive 1.000 138 139 1976 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.030 None 1.000 3 2 1999 2007
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
P31327 carbamoyl-phosphate synthase 1 Enzyme 133 0.590 0.615 1.1E-09 0.020 None 1.000 2 0 2001 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Q92834 retinitis pigmentosa GTPase regulator 167 0.536 0.692 1.00 0.020 None 1.000 2 1 1999 2007
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
O75051 plexin A2 307 0.447 0.808 1.1E-06 0.020 None 1.000 2 0 1995 2000
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15
Q9Y619 solute carrier family 25 member 15 Transporter 54 0.711 0.346 3.7E-07 0.010 None 1.000 1 0 2003 2003
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.010 None 1.000 1 0 1999 1999
Entrez Id: 7102
Gene Symbol: TSPAN7
TSPAN7
P41732 tetraspanin 7 87 0.604 0.731 0.75 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
P00156 cytochrome b 166 0.529 0.808 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2875
Gene Symbol: GPT
GPT
P24298 glutamic--pyruvic transaminase Enzyme 511 0.403 0.923 3.6E-19 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
P15104 glutamate-ammonia ligase Enzyme 200 0.513 0.731 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 25859
Gene Symbol: PART1
PART1
prostate androgen-regulated transcript 1 250 0.483 0.885 0.010 None 1.000 1 0 1991 1991
Entrez Id: 2155
Gene Symbol: F7
F7
P08709 coagulation factor VII Enzyme 99 0.623 0.615 1.3E-05 0.010 None 1.000 1 0 2008 2008
Entrez Id: 17
Gene Symbol: AAVS1
AAVS1
adeno-associated virus integration site 1 78 0.595 0.731 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
P08686 cytochrome P450 family 21 subfamily A member 2 166 0.525 0.769 2.6E-04 0.010 None 1.000 1 0 2001 2001
Entrez Id: 148811
Gene Symbol: PM20D1
PM20D1
Q6GTS8 peptidase M20 domain containing 1 7 0.821 0.308 1.9E-18 0.010 None 1.000 1 0 2001 2001
Entrez Id: 7942
Gene Symbol: TFEB
TFEB
P19484 transcription factor EB 150 0.527 0.731 0.90 0.010 None 1.000 1 0 2018 2018