| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
NPC intracellular cholesterol transporter 2 | 0.612 | 0.769 | 1.8E-03 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2017 | 2017 | ||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
phenotype | 0.110 | None | 1.000 | 0 | 3 | 2019 | 2019 | ||||||||
|
lipase A, lysosomal acid type | 0.564 | 0.654 | 5.5E-07 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 1995 | 1995 | ||||||||
|
interferon induced with helicase C domain 1 | 0.471 | 0.808 | 7.0E-44 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2020 | 2020 | ||||||||
|
ATPase H+ transporting accessory protein 1 | 0.691 | 0.577 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
ALG8 alpha-1,3-glucosyltransferase | 0.659 | 0.577 | 1.2E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | 0.319 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
N-acetyl-alpha-glucosaminidase | 0.546 | 0.769 | 1.4E-08 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
SH2 domain containing 1A | 0.525 | 0.731 | 0.39 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
hemoglobin subunit beta | 0.494 | 0.808 | 1.2E-09 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
galactosidase beta 1 | 0.448 | 0.808 | 7.9E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chloride voltage-gated channel 7 | 0.590 | 0.731 | 0.27 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
stromal antigen 2 | 0.568 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
steroid 5 alpha-reductase 3 | 0.604 | 0.692 | 2.5E-04 |
|
phenotype | 0.100 | None | 0 | 1 |