| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
mitochondrial ribosomal protein S34 | 0.722 | 0.346 | 2.6E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 1998 | 2000 | ||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 2016 | 2016 | ||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
alanyl-tRNA synthetase 2, mitochondrial | 0.644 | 0.500 | 5.0E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
junctophilin 3 | 0.608 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
gap junction protein gamma 2 | 0.593 | 0.692 | 1.0E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
chromosome 12 open reading frame 4 | 0.691 | 0.308 | 1.1E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coenzyme Q9 | 0.700 | 0.423 | 5.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coenzyme Q8A | 0.674 | 0.385 | 9.3E-11 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2017 | 2019 | ||||||||
|
formin 2 | 0.610 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2012 | 2017 | ||||||||
|
prosaposin | 0.532 | 0.846 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NADH:ubiquinone oxidoreductase subunit A12 | 0.659 | 0.462 | 7.4E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
zinc finger C4H2-type containing | 0.561 | 0.731 | 0.91 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
NAD(P)HX dehydratase | 0.839 | 0.231 | 7.0E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
trafficking protein particle complex 11 | 0.650 | 0.500 | 4.6E-10 |
|
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 | |||||||||||
|
solute carrier family 6 member 8 | 0.476 | 0.846 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.450 | None | 1.000 | 0 | 0 | 2000 | 2018 | ||||||||
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | 0.606 | 0.654 | 2.6E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
pleckstrin homology and RhoGEF domain containing G2 | 0.705 | 0.423 | 1.4E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ARV1 homolog, fatty acid homeostasis modulator | 0.691 | 0.423 | 3.6E-06 |
|
phenotype | 0.100 | None | 0 | 0 |