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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2009 | 2009 | ||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
tubulin beta 6 class V | 0.686 | 0.462 | 1.7E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
ectonucleoside triphosphate diphosphohydrolase 1 | 0.499 | 0.769 | 8.1E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
triggering receptor expressed on myeloid cells 2 | 0.519 | 0.769 | 3.3E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
MAGE family member L2 | 0.560 | 0.654 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 106B | 0.590 | 0.462 | 0.33 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NAD(P)HX dehydratase | 0.839 | 0.231 | 7.0E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
lipoyltransferase 1 | 0.674 | 0.462 | 3.8E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
pyruvate dehydrogenase E1 subunit alpha 1 | 0.581 | 0.538 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 0.504 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
myotubularin 1 | 0.573 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
microtubule associated protein tau | 0.446 | 0.923 | 6.0E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
transmembrane protein 165 | 0.711 | 0.385 | 0.28 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytochrome P450 family 7 subfamily B member 1 | 0.563 | 0.692 | 3.3E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
eukaryotic translation initiation factor 2B subunit epsilon | 0.615 | 0.769 | 6.4E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
sequestosome 1 | 0.428 | 0.885 | 8.6E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | 0.650 | 0.654 | 1.3E-03 |
|
phenotype | 0.100 | None | 0 | 0 |