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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
arginyl-tRNA synthetase 2, mitochondrial | 0.663 | 0.462 | 7.7E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
inositol polyphosphate-5-phosphatase E | 0.561 | 0.615 | 3.1E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
methylcrotonoyl-CoA carboxylase 1 | 0.700 | 0.308 | 4.0E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
mitochondrial fission factor | 0.705 | 0.462 | 6.5E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
PR/SET domain 8 | 0.678 | 0.462 | 0.78 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coenzyme Q8A | 0.674 | 0.385 | 9.3E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 19 | 0.585 | 0.731 | 3.2E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 2 | 0.582 | 0.654 | 2.6E-04 |
|
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 | |||||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
reticulon 2 | 0.711 | 0.385 | 0.42 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
S-antigen visual arrestin | 0.570 | 0.731 | 1.5E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ataxin 1 | 0.534 | 0.769 | 0.97 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATXN8 opposite strand lncRNA | 0.650 | 0.423 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
succinate dehydrogenase complex subunit D | 0.472 | 0.885 | 0.34 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
methylcrotonoyl-CoA carboxylase 2 | 0.674 | 0.423 | 4.5E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 39 member 8 | 0.584 | 0.769 | 0.67 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
semaphorin 4A | 0.569 | 0.692 | 1.8E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RP9 pre-mRNA splicing factor | 0.670 | 0.500 | 1.9E-02 |
|
phenotype | 0.100 | None | 0 | 0 |