Source: ALL
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: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 443 0.474 0.724 1.00 0.420 1.000 4 1 2007 2015
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
O43819 SCO2, cytochrome c oxidase assembly protein oxidoreductase 63 0.648 0.414 6.8E-07 0.420 1.000 2 1 2013 2013
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
P30533 LDL receptor related protein associated protein 1 57 0.600 0.621 5.2E-07 0.410 1.000 4 1 2013 2016
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
P20849 collagen type IX alpha 1 chain 90 0.596 0.517 3.2E-19 0.400 1 0 2006 2006
Entrez Id: 57369
Gene Symbol: GJD2
GJD2
Q9UKL4 gap junction protein delta 2 cell junction protein 10 0.773 0.276 0.23 0.350 0.800 6 0 2012 2018
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1
Q13972 Ras protein specific guanine nucleotide releasing factor 1 enzyme modulator 80 0.573 0.655 1.00 0.320 0.500 3 0 2013 2018
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
P0CW18 serine protease 56 hydrolase; protease 18 0.752 0.172 2.6E-04 0.320 1.000 3 0 2013 2015
Entrez Id: 650
Gene Symbol: BMP2
BMP2
P12643 bone morphogenetic protein 2 signaling molecule 214 0.491 0.759 0.99 0.320 1.000 3 0 2010 2013
Entrez Id: 5959
Gene Symbol: RDH5
RDH5
Q92781 retinol dehydrogenase 5 oxidoreductase 31 0.681 0.310 8.0E-11 0.310 < 0.001 2 0 2013 2015
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
P24043 laminin subunit alpha 2 enzyme modulator; extracellular matrix protein; receptor 112 0.598 0.621 7.8E-47 0.310 1.000 2 0 2013 2016
Entrez Id: 55214
Gene Symbol: P3H2
P3H2
Q8IVL5 prolyl 3-hydroxylase 2 extracellular matrix protein 14 0.773 0.207 0.310 1.000 1 0 2015 2015
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5
Q9NR82 potassium voltage-gated channel subfamily Q member 5 14 0.762 0.345 0.98 0.300 1 0 2013 2013
Entrez Id: 4990
Gene Symbol: SIX6
SIX6
O95475 SIX homeobox 6 transcription factor 63 0.609 0.552 0.55 0.300 1 0 2013 2013
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
P48058 glutamate ionotropic receptor AMPA type subunit 4 26 0.713 0.448 4.5E-03 0.300 1 0 2013 2013
Entrez Id: 10265
Gene Symbol: IRX5
IRX5
P78411 iroquois homeobox 5 nucleic acid binding; transcription factor 63 0.642 0.586 0.98 0.300 1 0 2012 2012
Entrez Id: 135
Gene Symbol: ADORA2A
ADORA2A
P29274 adenosine A2a receptor receptor 163 0.537 0.690 0.60 0.210 1.000 4 0 1999 2010
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Q92834 retinitis pigmentosa GTPase regulator 107 0.577 0.621 1.00 0.130 1.000 3 0 1992 2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 calcium-binding protein; cell adhesion molecule; extracellular matrix protein; signaling molecule 413 0.469 0.690 1.00 0.120 0.500 3 3 2013 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 336 0.472 0.724 1.00 0.120 1.000 2 0 2007 2009
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5
Q9NQX1 PR/SET domain 5 51 0.652 0.483 3.5E-10 0.110 1.000 1 0 2016 2016
Entrez Id: 84189
Gene Symbol: SLITRK6
SLITRK6
Q9H5Y7 SLIT and NTRK like family member 6 19 0.743 0.345 9.7E-13 0.110 1.000 1 0 2013 2013
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
P02489 crystallin alpha A 38 0.663 0.345 0.14 0.110 1.000 1 0 2011 2011
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
Q13515 beaded filament structural protein 2 17 0.720 0.241 2.1E-07 0.110 1.000 1 0 2005 2005
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
O15303 glutamate metabotropic receptor 6 receptor 25 0.696 0.276 1.1E-16 0.110 1.000 1 0 2009 2009
Entrez Id: 6102
Gene Symbol: RP2
RP2
O75695 RP2, ARL3 GTPase activating protein kinase; transferase 48 0.667 0.379 0.96 0.110 1.000 1 0 1992 1992