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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
protein phosphatase 2 scaffold subunit Aalpha | 0.588 | 0.577 | 0.98 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
reticulophagy regulator 1 | 0.623 | 0.538 | 6.4E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Ras and Rab interactor 2 | 0.623 | 0.692 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DNA polymerase epsilon, catalytic subunit | 0.526 | 0.731 | 8.0E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
N-acetylneuraminate synthase | 0.545 | 0.692 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
PMS1 homolog 1, mismatch repair system component | 0.569 | 0.654 | 1.3E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | 0.579 | 0.731 | 1.5E-15 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
PLAG1 like zinc finger 1 | 0.566 | 0.769 | 0.98 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ring finger protein 216 | 0.670 | 0.615 | 2.3E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DGCR8 microprocessor complex subunit | 0.579 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
POU class 1 homeobox 1 | 0.548 | 0.654 | 4.5E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aspartyl-tRNA synthetase 2, mitochondrial | 0.638 | 0.577 | 9.8E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
FKBP prolyl isomerase 14 | 0.650 | 0.654 | 1.5E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 70 | 0.636 | 0.654 | 2.9E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein phosphatase, Mg2+/Mn2+ dependent 1B | 0.711 | 0.500 | 9.1E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
Abelson helper integration site 1 | 0.513 | 0.846 | 1.1E-25 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
interleukin 17 receptor D | 0.617 | 0.654 | 1.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
pyruvate dehyrogenase phosphatase catalytic subunit 1 | 0.691 | 0.462 | 0.45 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
MAGE family member L2 | 0.560 | 0.654 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NADH:ubiquinone oxidoreductase subunit B11 | 0.566 | 0.692 | 0.80 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
acid phosphatase 2, lysosomal | 0.780 | 0.346 | 6.2E-05 |
|
phenotype | 0.100 | None | 0 | 0 |