| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ST20-MTHFS readthrough | 0.805 | 0.115 | 7.6E-03 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
RNA polymerase III subunit B | 0.628 | 0.654 | 1.7E-23 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
gap junction protein gamma 2 | 0.593 | 0.692 | 1.0E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
purine rich element binding protein A | 0.644 | 0.500 | 0.94 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
glutaminyl-tRNA synthetase 1 | 0.716 | 0.231 | 2.7E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
zinc finger protein 335 | 0.711 | 0.462 | 6.9E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
spectrin alpha, non-erythrocytic 1 | 0.601 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tubulin folding cofactor D | 0.599 | 0.615 | 1.0E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
asparaginyl-tRNA synthetase 2, mitochondrial | 0.650 | 0.577 | 7.1E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Smad nuclear interacting protein 1 | 0.682 | 0.462 | 0.42 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
gigaxonin | 0.674 | 0.500 | 2.5E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NK6 homeobox 2 | 0.695 | 0.500 | 2.9E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
adaptor related protein complex 4 subunit mu 1 | 0.638 | 0.500 | 4.5E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 33 member 1 | 0.529 | 0.769 | 9.9E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
required for meiotic nuclear division 1 homolog | 0.674 | 0.462 | 1.1E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ganglioside induced differentiation associated protein 1 | 0.612 | 0.538 | 3.2E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
methenyltetrahydrofolate synthetase | 0.678 | 0.500 | 2.6E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
RNA polymerase III subunit A | 0.538 | 0.769 | 1.3E-23 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
adenylosuccinate lyase | 0.631 | 0.654 | 8.9E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
alanyl-tRNA synthetase 1 | 0.647 | 0.462 | 1.8E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aspartyl-tRNA synthetase 1 | 0.711 | 0.500 | 8.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | 0.644 | 0.692 | 6.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
adenosylhomocysteinase | 0.582 | 0.692 | 3.6E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
prolyl-tRNA synthetase 2, mitochondrial | 0.644 | 0.423 | 4.1E-03 |
|
phenotype | 0.100 | None | 0 | 0 |