| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ribitol xylosyltransferase 1 | 0.633 | 0.462 | 1.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
triadin | 0.691 | 0.462 | 8.4E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily A member 7 | 0.644 | 0.577 | 2.1E-55 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
semaphorin 3A | 0.500 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tubulin beta 4A class IVa | 0.608 | 0.615 | 0.11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
EMG1 N1-specific pseudouridine methyltransferase | 0.686 | 0.615 | 1.5E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
translocase of outer mitochondrial membrane 40 | 0.590 | 0.538 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
progesterone immunomodulatory binding factor 1 | 0.670 | 0.462 | 1.9E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
component of oligomeric golgi complex 5 | 0.656 | 0.538 | 9.8E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
zinc finger and BTB domain containing 18 | 0.666 | 0.500 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
SEC23 homolog B, COPII coat complex component | 0.579 | 0.692 | 6.1E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ribonuclease H2 subunit A | 0.592 | 0.692 | 4.2E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 35 member A1 | 0.601 | 0.654 | 0.68 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
ADP ribosylation factor guanine nucleotide exchange factor 2 | 0.659 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NPC intracellular cholesterol transporter 2 | 0.612 | 0.769 | 1.8E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein O-mannosyltransferase 1 | 0.525 | 0.615 | 4.2E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
methenyltetrahydrofolate synthetase | 0.678 | 0.500 | 2.6E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
STAM binding protein | 0.653 | 0.423 | 5.4E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
centromere protein E | 0.636 | 0.692 | 0.24 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NPR2 like, GATOR1 complex subunit | 0.644 | 0.462 | 0.39 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2016 | 2019 | ||||||||
|
phenylalanyl-tRNA synthetase 2, mitochondrial | 0.615 | 0.731 | 9.3E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
EBP cholestenol delta-isomerase | 0.494 | 0.846 | 0.94 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
claudin 16 | 0.647 | 0.538 | 2.5E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
canopy FGF signaling regulator 3 | 0.805 | 0.269 | 0.40 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
adaptor related protein complex 4 subunit beta 1 | 0.631 | 0.654 | 1.3E-09 |
|
phenotype | 0.100 | None | 0 | 0 |