Gene | Gene Full Name | DSI g | DPI g | pLI | Disease | Type | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RPGR interacting protein 1 | 0.553 | 0.654 | 1.3E-23 |
|
group | 0.420 | None | 1.000 | 0 | 6 | 2002 | 2006 | ||||||||
|
phosphoribosyl pyrophosphate synthetase 1 | 0.584 | 0.731 | 0.92 |
|
group | 0.400 | strong | 1.000 | 0 | 4 | 2018 | 2018 | ||||||||
|
lecithin retinol acyltransferase | 0.608 | 0.654 | 2.8E-02 |
|
group | 0.130 | None | 1.000 | 0 | 1 | 2011 | 2014 | ||||||||
|
nicotinamide nucleotide adenylyltransferase 1 | 0.656 | 0.269 | 3.5E-02 |
|
group | 0.130 | None | 1.000 | 0 | 1 | 2014 | 2018 | ||||||||
|
guanylate cyclase activator 1A | 0.647 | 0.500 | 4.1E-04 |
|
group | 0.120 | None | 1.000 | 0 | 1 | 2005 | 2019 | ||||||||
|
MER proto-oncogene, tyrosine kinase | 0.531 | 0.692 | 2.7E-11 |
|
group | 0.120 | None | 1.000 | 0 | 1 | 2000 | 2010 | ||||||||
|
cone-rod homeobox | 0.565 | 0.692 | 0.51 |
|
group | 0.110 | None | 1.000 | 0 | 2 | 2014 | 2014 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
group | 0.110 | None | 1.000 | 0 | 2 | 2016 | 2016 | ||||||||
|
nuclear receptor subfamily 2 group E member 3 | 0.603 | 0.500 |
|
group | 0.110 | None | 1.000 | 0 | 3 | 2019 | 2019 | |||||||||
|
cilia and flagella associated protein 410 | 0.633 | 0.615 | 3.3E-07 |
|
group | 0.110 | None | 1.000 | 0 | 2 | 2015 | 2015 | ||||||||
|
cyclic nucleotide gated channel subunit alpha 3 | 0.650 | 0.154 | 8.0E-20 |
|
group | 0.110 | None | 1.000 | 0 | 1 | 2002 | 2002 | ||||||||
|
phosphodiesterase 6B | 0.626 | 0.346 | 2.6E-27 |
|
group | 0.110 | None | 1.000 | 0 | 1 | 2017 | 2017 | ||||||||
|
DNA damage regulated autophagy modulator 2 | 0.729 | 0.462 | 1.4E-04 |
|
group | 0.110 | None | 1.000 | 0 | 7 | 2015 | 2015 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
group | 0.100 | None | 0 | 3 | |||||||||||
|
clarin 1 | 0.633 | 0.423 | 1.7E-08 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 19 member 1 | 0.523 | 0.692 | 6.5E-06 |
|
group | 0.100 | None | 0 | 4 | |||||||||||
|
Bardet-Biedl syndrome 7 | 0.682 | 0.462 | 7.1E-09 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
group | 0.100 | None | 0 | 2 | |||||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
group | 0.100 | None | 0 | 2 | |||||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
plasmolipin | 0.805 | 0.269 | 9.2E-03 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
calcium binding protein 4 | 0.711 | 0.154 | 1.7E-10 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
LDL receptor related protein 2 | 0.491 | 0.846 | 1.00 |
|
group | 0.100 | None | 0 | 2 | |||||||||||
|
ADP ribosylation factor like GTPase 2 binding protein | 0.647 | 0.654 | 3.3E-05 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
group | 0.100 | None | 0 | 1 |