| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
phenotype | 0.100 | None | 0 | 5 | |||||||||||
|
Fas cell surface death receptor | 0.372 | 0.923 | 0.81 |
|
phenotype | 0.400 | None | 1.000 | 1 | 2 | 2011 | 2011 | ||||||||
|
SBDS ribosome maturation factor | 0.601 | 0.692 | 6.2E-05 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
alpha kinase 1 | 0.644 | 0.615 | 1.0E-19 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
dyskerin pseudouridine synthase 1 | 0.547 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Janus kinase 2 | 0.385 | 0.885 | 0.65 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
hemoglobin subunit alpha 2 | 0.512 | 0.808 | 3.1E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NIMA related kinase 4 | 0.751 | 0.192 | 8.7E-27 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
adenosine deaminase 2 | 0.545 | 0.846 | 8.1E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
spectrin beta, erythrocytic | 0.650 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glucose-6-phosphatase catalytic subunit | 0.560 | 0.692 | 1.8E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SH2B adaptor protein 3 | 0.527 | 0.692 | 1.0E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
bradykinin receptor B1 | 0.619 | 0.731 | 4.7E-03 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
eukaryotic translation initiation factor 2 alpha kinase 1 | 0.633 | 0.577 | 7.0E-07 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
apolipoprotein E | 0.338 | 0.962 | 1.9E-03 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
cytochrome P450 family 1 subfamily A member 2 | 0.494 | 0.923 | 2.5E-10 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
amyloid beta precursor protein | 0.422 | 0.846 | 4.7E-02 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
deoxyribonuclease 2, lysosomal | 0.700 | 0.462 | 4.5E-04 |
|
phenotype | 0.200 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
microtubule associated protein tau | 0.446 | 0.923 | 6.0E-03 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
potassium calcium-activated channel subfamily N member 3 | 0.621 | 0.615 | 0.97 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
MDS1 and EVI1 complex locus | 0.513 | 0.731 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
thymidylate synthetase | 0.425 | 0.846 | 0.72 |
|
phenotype | 0.200 | None | 1.000 | 1 | 0 | 2001 | 2001 |