| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
gem nuclear organelle associated protein 4 | 0.565 | 0.808 | 5.9E-13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protocadherin beta 4 | 0.931 | 0.077 | 7.0E-12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
formin 2 | 0.610 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
arginyl-tRNA synthetase 2, mitochondrial | 0.663 | 0.462 | 7.7E-14 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
THAP domain containing 11 | 0.769 | 0.346 | 0.83 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
WD repeat domain 19 | 0.554 | 0.769 | 4.6E-11 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
pyrroline-5-carboxylate reductase 1 | 0.570 | 0.654 | 2.0E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
aldehyde dehydrogenase 18 family member A1 | 0.551 | 0.769 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutaminyl-tRNA synthetase 1 | 0.716 | 0.231 | 2.7E-13 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
RAD51 recombinase | 0.447 | 0.846 | 2.7E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
kelch like family member 7 | 0.581 | 0.731 | 4.6E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
exosome component 3 | 0.610 | 0.692 | 2.4E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SBDS ribosome maturation factor | 0.601 | 0.692 | 6.2E-05 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
cyclin dependent kinase 2 interacting protein | 0.821 | 0.231 | 5.7E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
pyruvate dehydrogenase E1 subunit alpha 1 | 0.581 | 0.538 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
OTU deubiquitinase 6B | 0.659 | 0.538 | 1.3E-07 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
WW domain containing oxidoreductase | 0.453 | 0.808 | 1.2E-15 |
|
phenotype | 0.100 | None | 0 | 1 |