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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ATP synthase F1 subunit delta | 0.674 | 0.500 | 7.4E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
inositol 1,4,5-trisphosphate receptor type 1 | 0.534 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2017 | 2017 | ||||||||
|
double PHD fingers 2 | 0.604 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
trafficking protein particle complex 11 | 0.650 | 0.500 | 4.6E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
branched chain keto acid dehydrogenase E1 subunit beta | 0.682 | 0.500 | 4.3E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aldehyde dehydrogenase 18 family member A1 | 0.551 | 0.769 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 5 | 0.561 | 0.731 | 5.6E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
prune exopolyphosphatase 1 | 0.678 | 0.308 | 9.1E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
elaC ribonuclease Z 2 | 0.670 | 0.346 | 1.7E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
valyl-tRNA synthetase 2, mitochondrial | 0.666 | 0.577 | 5.8E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ret proto-oncogene | 0.392 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
branched chain keto acid dehydrogenase E1 subunit alpha | 0.695 | 0.423 | 9.8E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Rac family small GTPase 1 | 0.429 | 0.962 | 0.76 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin beta | 0.325 | 0.923 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
glutaminyl-tRNA synthetase 1 | 0.716 | 0.231 | 2.7E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 5 member 7 | 0.597 | 0.654 | 1.5E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
membrane palmitoylated protein 4 | 0.792 | 0.308 | 3.4E-18 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kinase D interacting substrate 220 | 0.534 | 0.769 | 7.4E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 2 | 0.582 | 0.654 | 2.6E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily D member 4 | 0.769 | 0.308 | 1.3E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ectopic P-granules autophagy protein 5 homolog | 0.623 | 0.769 | 1.4E-13 |
|
phenotype | 0.100 | None | 0 | 0 |