| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3-hydroxy-3-methylglutaryl-CoA lyase | 0.691 | 0.462 | 2.6E-06 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1968 | 1968 | ||||||||
|
cathepsin C | 0.541 | 0.731 | 1.1E-07 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1978 | 1978 | ||||||||
|
uridine-cytidine kinase 2 | 0.663 | 0.462 | 0.72 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1979 | 1979 | ||||||||
|
hydroxyacyl-CoA dehydrogenase | 0.650 | 0.538 | 6.6E-05 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1982 | 1982 | ||||||||
|
5'-aminolevulinate synthase 1 | 0.705 | 0.462 | 0.11 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1983 | 1983 | ||||||||
|
hydroxymethylbilane synthase | 0.559 | 0.731 | 0.95 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1983 | 1983 | ||||||||
|
ketohexokinase | 0.700 | 0.346 | 2.1E-09 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1984 | 1984 | ||||||||
|
aldolase, fructose-bisphosphate B | 0.623 | 0.538 | 7.9E-07 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1985 | 1985 | ||||||||
|
GC vitamin D binding protein | 0.489 | 0.885 | 2.7E-11 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1985 | 1985 | ||||||||
|
3-hydroxybutyrate dehydrogenase 1 | 0.729 | 0.423 | 7.6E-08 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1986 | 1986 | ||||||||
|
3-oxoacid CoA-transferase 1 | 0.686 | 0.423 | 4.7E-03 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1986 | 1986 | ||||||||
|
cytochrome P450 family 27 subfamily B member 1 | 0.502 | 0.769 | 1.9E-07 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1987 | 1987 | ||||||||
|
carbamoyl-phosphate synthase 1 | 0.590 | 0.615 | 1.1E-09 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1987 | 1987 | ||||||||
|
hypoxanthine phosphoribosyltransferase 1 | 0.500 | 0.808 | 0.94 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
phosphoribosyl pyrophosphate amidotransferase | 0.705 | 0.385 | 0.99 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
phosphoribosylformylglycinamidine synthase | 0.780 | 0.308 | 9.9E-18 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
gamma-aminobutyric acid type B receptor subunit 1 | 0.587 | 0.769 | 1.00 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
adenylosuccinate lyase | 0.631 | 0.654 | 8.9E-12 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
adenylosuccinate synthase 1 | 0.722 | 0.385 | 2.8E-07 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
guanine monophosphate synthase | 0.769 | 0.269 | 1.00 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
adenine phosphoribosyltransferase | 0.423 | 0.846 | 5.5E-13 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1989 | 1989 | ||||||||
|
uridine monophosphate synthetase | 0.584 | 0.615 | 1.1E-04 |
|
disease | 0.200 | None | 1.000 | 2 | 0 | 1985 | 1992 | ||||||||
|
dihydroorotate dehydrogenase (quinone) | 0.576 | 0.769 | 3.0E-03 |
|
disease | 0.200 | None | 1.000 | 2 | 0 | 1991 | 1992 | ||||||||
|
uracil phosphoribosyltransferase homolog | 0.700 | 0.462 | 0.58 |
|
disease | 0.200 | None | 1.000 | 1 | 0 | 1992 | 1992 |