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 | |||||||||||
|
sulfite oxidase | 0.638 | 0.615 | 9.4E-07 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
metabolism of cobalamin associated D | 0.751 | 0.385 | 2.1E-05 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
major histocompatibility complex, class I-related | 0.716 | 0.346 | 4.9E-18 |
|
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 | |||||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
mitochondrial inner membrane protein MPV17 | 0.595 | 0.577 | 9.7E-11 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
solute carrier family 46 member 1 | 0.606 | 0.731 | 2.2E-02 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
FAST kinase domains 2 | 0.659 | 0.731 | 2.9E-06 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
GTP binding protein 2 | 0.736 | 0.423 | 0.32 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
FAD dependent oxidoreductase domain containing 1 | 0.633 | 0.462 | 2.0E-16 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
NPC intracellular cholesterol transporter 2 | 0.612 | 0.769 | 1.8E-03 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2003 | 2003 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
sterol carrier protein 2 | 0.644 | 0.500 | 8.7E-07 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
ceruloplasmin | 0.466 | 0.846 | 4.2E-10 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 1987 | 2006 | ||||||||
|
ribonuclease H2 subunit B | 0.595 | 0.615 | 3.3E-09 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
cytochrome P450 family 2 subfamily D member 6 | 0.437 | 0.885 | 1.1E-25 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
ribonuclease H2 subunit A | 0.592 | 0.692 | 4.2E-03 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
ribonuclease H2 subunit C | 0.590 | 0.731 | 5.5E-03 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
L-2-hydroxyglutarate dehydrogenase | 0.653 | 0.462 | 4.2E-05 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2008 | 2008 |