| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
glycosyltransferase 8 domain containing 1 | 0.711 | 0.462 | 1.1E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
TBC1 domain family member 23 | 0.729 | 0.308 | 1.8E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein kinase cAMP-dependent type I regulatory subunit alpha | 0.401 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
LIM zinc finger domain containing 2 | 0.751 | 0.308 | 5.1E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein kinase cAMP-activated catalytic subunit alpha | 0.606 | 0.692 | 0.97 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 0.537 | 0.538 | 1.9E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
dehydrogenase E1 and transketolase domain containing 1 | 0.711 | 0.385 | 2.8E-30 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 7 | 0.682 | 0.462 | 7.1E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aspartyl-tRNA synthetase 2, mitochondrial | 0.638 | 0.577 | 9.8E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RNA binding motif protein 28 | 0.682 | 0.423 | 6.2E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
FKBP prolyl isomerase 14 | 0.650 | 0.654 | 1.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tetratricopeptide repeat domain 19 | 0.663 | 0.385 | 1.4E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nudE neurodevelopment protein 1 | 0.608 | 0.462 | 6.7E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
leucine zipper transcription factor like 1 | 0.638 | 0.692 | 5.9E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NADH:ubiquinone oxidoreductase subunit A12 | 0.659 | 0.462 | 7.4E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
leiomodin 3 | 0.700 | 0.423 | 1.6E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peripherin | 0.623 | 0.462 | 4.8E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 25 member 19 | 0.653 | 0.577 | 0.65 |
|
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 | |||||||||||
|
receptor associated protein of the synapse | 0.593 | 0.731 | 1.5E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
phenotype | 0.100 | None | 0 | 0 |