| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
glutamyl-tRNA synthetase 2, mitochondrial | 0.666 | 0.538 | 1.1E-08 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
major histocompatibility complex, class I-related | 0.716 | 0.346 | 4.9E-18 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
metabolism of cobalamin associated D | 0.751 | 0.385 | 2.1E-05 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
mitochondrial inner membrane protein MPV17 | 0.595 | 0.577 | 9.7E-11 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
GTP binding protein 2 | 0.736 | 0.423 | 0.32 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
FAST kinase domains 2 | 0.659 | 0.731 | 2.9E-06 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
FAD dependent oxidoreductase domain containing 1 | 0.633 | 0.462 | 2.0E-16 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
solute carrier family 46 member 1 | 0.606 | 0.731 | 2.2E-02 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
sulfite oxidase | 0.638 | 0.615 | 9.4E-07 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
ceruloplasmin | 0.466 | 0.846 | 4.2E-10 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 1987 | 2006 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.700 | None | 0.982 | 1 | 0 | 1991 | 2019 | ||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
phenotype | 0.430 | None | 1.000 | 2 | 0 | 1995 | 2015 | ||||||||
|
parkin RBR E3 ubiquitin protein ligase | 0.431 | 0.846 | 6.9E-07 |
|
phenotype | 0.490 | strong | 1.000 | 2 | 0 | 1998 | 2020 | ||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
THAP domain containing 1 | 0.644 | 0.462 | 0.80 |
|
phenotype | 0.600 | None | 0.964 | 1 | 0 | 1999 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.480 | None | 1.000 | 1 | 0 | 1999 | 2020 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.450 | None | 1.000 | 3 | 0 | 2000 | 2018 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 2001 | 2019 | ||||||||
|
NPC intracellular cholesterol transporter 2 | 0.612 | 0.769 | 1.8E-03 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
phenotype | 0.460 | None | 1.000 | 2 | 0 | 2002 | 2015 |