| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2011 | 2016 | ||||||||
|
sodium voltage-gated channel alpha subunit 4 | 0.554 | 0.731 | 1.3E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2004 | 2008 | ||||||||
|
geminin DNA replication inhibitor | 0.554 | 0.808 | 0.11 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
mechanistic target of rapamycin kinase | 0.343 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
ALX homeobox 4 | 0.560 | 0.692 | 0.36 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
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 | |||||||||||
|
peroxisomal biogenesis factor 2 | 0.582 | 0.654 | 2.6E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Rac family small GTPase 1 | 0.429 | 0.962 | 0.76 |
|
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 | 0 | |||||||||||
|
ATP/GTP binding protein like 5 | 0.711 | 0.269 | 2.4E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RNA component of mitochondrial RNA processing endoribonuclease | 0.519 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
RAD21 cohesin complex component | 0.528 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
rhodopsin | 0.525 | 0.769 | 1.3E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinol binding protein 3 | 0.621 | 0.500 | 1.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinal G protein coupled receptor | 0.691 | 0.385 | 2.4E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin beta | 0.325 | 0.923 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 |