| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.140 | None | 1.000 | 0 | 0 | 2005 | 2014 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
phenotype | 0.140 | None | 1.000 | 0 | 0 | 2003 | 2013 | ||||||||
|
myosin heavy chain 2 | 0.619 | 0.731 | 3.7E-23 |
|
phenotype | 0.140 | None | 1.000 | 0 | 0 | 2013 | 2018 | ||||||||
|
OPA1 mitochondrial dynamin like GTPase | 0.510 | 0.846 | 0.99 |
|
phenotype | 0.130 | None | 1.000 | 0 | 0 | 2004 | 2008 | ||||||||
|
synthesis of cytochrome C oxidase 2 | 0.479 | 0.846 | 7.5E-07 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2014 | 2017 | ||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.110 | None | 1.000 | 1 | 2 | 2008 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase core subunit V1 | 0.617 | 0.538 | 6.4E-11 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
chromosome 12 open reading frame 65 | 0.678 | 0.346 | 0.21 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
actin alpha 1, skeletal muscle | 0.540 | 0.769 | 1.1E-06 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2004 | 2004 | ||||||||
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
carnitine O-acetyltransferase | 0.656 | 0.577 | 9.5E-12 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2020 | 2020 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinol binding protein 3 | 0.621 | 0.500 | 1.1E-04 |
|
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 | |||||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
KIAA1549 | 0.615 | 0.346 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
REV3 like, DNA directed polymerase zeta catalytic subunit | 0.588 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinal G protein coupled receptor | 0.691 | 0.385 | 2.4E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
rhodopsin | 0.525 | 0.769 | 1.3E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
S-antigen visual arrestin | 0.570 | 0.731 | 1.5E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinitis pigmentosa GTPase regulator | 0.536 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RP2 activator of ARL3 GTPase | 0.670 | 0.346 | 0.96 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RP1 axonemal microtubule associated | 0.663 | 0.462 | 4.4E-13 |
|
phenotype | 0.100 | None | 0 | 0 |