| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
immunoglobulin heavy locus | 0.473 | 0.654 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
ATP synthase F0 subunit 6 | 0.541 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
cytochrome c oxidase III | 0.546 | 0.808 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
cytochrome b | 0.529 | 0.808 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
NADH dehydrogenase, subunit 1 (complex I) | 0.522 | 0.769 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
MTND2 | 0.601 | 0.615 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
NADH dehydrogenase, subunit 4 (complex I) | 0.546 | 0.769 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
NADH dehydrogenase, subunit 4L (complex I) | 0.805 | 0.308 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
NADH dehydrogenase, subunit 5 (complex I) | 0.531 | 0.769 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
NADH dehydrogenase, subunit 6 (complex I) | 0.544 | 0.808 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tRNA | 0.647 | 0.692 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tRNA | 0.608 | 0.577 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tRNA | 0.534 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tRNA | 0.579 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
RNA component of mitochondrial RNA processing endoribonuclease | 0.519 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
sex determining region Y | 0.456 | 0.808 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
collagen type VII alpha 1 chain | 0.545 | 0.808 | 2.4E-40 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
phenotype | 0.100 | None | 0 | 0 |