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: 6247
Gene Symbol: RS1
RS1
O15537 retinoschisin 1 Enzyme 43 0.686 0.500 0.96 0.500 None 1.000 17 6 1998 2017
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
Q9Y5X4 nuclear receptor subfamily 2 group E member 3 Nuclear receptor 90 0.603 0.500 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 6
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
P63261 actin gamma 1 Cellular structure 291 0.477 0.846 4.8E-03 0.100 None 0 0
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
O75051 plexin A2 307 0.447 0.808 1.1E-06 0.030 None 1.000 3 0 2018 2020
Entrez Id: 6120
Gene Symbol: RPE
RPE
Q96AT9 ribulose-5-phosphate-3-epimerase 90 0.575 0.538 2.5E-04 0.020 None 1.000 2 0 2018 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.020 None 1.000 2 0 1983 1988
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
P78562 phosphate regulating endopeptidase homolog X-linked Enzyme 142 0.548 0.808 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 30062
Gene Symbol: RAX
RAX
Q9Y2V3 retina and anterior neural fold homeobox 18 0.729 0.346 0.10 0.010 None 1.000 1 0 2017 2017
Entrez Id: 22862
Gene Symbol: FNDC3A
FNDC3A
Q9Y2H6 fibronectin type III domain containing 3A 35 0.674 0.577 1.00 0.010 None 1.000 1 0 1999 1999
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Q92834 retinitis pigmentosa GTPase regulator 167 0.536 0.692 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.010 None 1.000 1 0 2003 2003