| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
deoxyhypusine synthase | 0.670 | 0.538 | 1.6E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.100 | None | 1.000 | 41 | 1 | 2001 | 2018 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 4 | 5 | 1992 | 2014 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
neuroligin 4 X-linked | 0.686 | 0.423 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nucleoporin 107 | 0.595 | 0.500 | 2.6E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coiled-coil domain containing 47 | 0.678 | 0.462 | 6.1E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
proline dehydrogenase 1 | 0.612 | 0.692 | 5.4E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
prion protein | 0.445 | 0.923 | 6.3E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
mitogen-activated protein kinase kinase 2 | 0.534 | 0.731 | 0.97 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
alanyl-tRNA synthetase 2, mitochondrial | 0.644 | 0.500 | 5.0E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Rho GTPase activating protein 31 | 0.581 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | 0.705 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RNA component of mitochondrial RNA processing endoribonuclease | 0.519 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
RAP1B, member of RAS oncogene family | 0.565 | 0.769 | 0.91 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RAP1A, member of RAS oncogene family | 0.502 | 0.808 | 0.62 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NLR family CARD domain containing 4 | 0.556 | 0.769 | 9.9E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 5 | 0.561 | 0.731 | 5.6E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 2 | 0.582 | 0.654 | 2.6E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 19 | 0.585 | 0.731 | 3.2E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nectin cell adhesion molecule 1 | 0.523 | 0.808 | 6.1E-02 |
|
phenotype | 0.100 | None | 0 | 0 |