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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RAB28, member RAS oncogene family | 0.792 | 0.077 | 2.5E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2013 | 2015 | ||||||||
|
TUB like protein 1 | 0.623 | 0.462 | 5.7E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
phosphodiesterase 6H | 0.700 | 0.269 | 8.3E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinaldehyde binding protein 1 | 0.644 | 0.500 | 1.1E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
rhodopsin | 0.525 | 0.769 | 1.3E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinal G protein coupled receptor | 0.691 | 0.385 | 2.4E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
opsin 1, long wave sensitive | 0.497 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinol binding protein 3 | 0.621 | 0.500 | 1.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP/GTP binding protein like 5 | 0.711 | 0.269 | 2.4E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinal outer segment membrane protein 1 | 0.579 | 0.654 | 4.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RP9 pre-mRNA splicing factor | 0.670 | 0.500 | 1.9E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RP1 axonemal microtubule associated | 0.663 | 0.462 | 4.4E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RP2 activator of ARL3 GTPase | 0.670 | 0.346 | 0.96 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinitis pigmentosa GTPase regulator | 0.536 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
retinoschisin 1 | 0.686 | 0.500 | 0.96 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
S-antigen visual arrestin | 0.570 | 0.731 | 1.5E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 7 member 14 | 0.695 | 0.308 | 2.2E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphodiesterase 6B | 0.626 | 0.346 | 2.6E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 12 | 0.601 | 0.615 | 9.5E-16 |
|
phenotype | 0.100 | None | 0 | 0 |