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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
fumarylacetoacetate hydrolase | 0.612 | 0.538 | 4.0E-17 |
|
disease | 1.000 | definitive | 0.990 | 101 | 55 | 1981 | 2019 | ||||||||
|
4-hydroxyphenylpyruvate dioxygenase | 0.573 | 0.769 | 5.3E-04 |
|
disease | 0.360 | None | 1.000 | 6 | 0 | 2002 | 2019 | ||||||||
|
Hypertelorism, preauricular sinus, punctal pits, and deafness | 0.839 | 0.192 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2017 | 2019 | |||||||||
|
tyrosinase | 0.473 | 0.808 | 5.0E-32 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
ornithine carbamoyltransferase | 0.565 | 0.846 | 0.87 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
8-oxoguanine DNA glycosylase | 0.453 | 0.808 | 3.9E-12 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
methionine adenosyltransferase 1A | 0.582 | 0.577 | 8.1E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
microphthalmia or anophthalmia and associated anomalies | 0.666 | 0.577 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | |||||||||
|
acetyl-CoA acetyltransferase 1 | 0.538 | 0.692 | 9.9E-08 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
alpha-L-iduronidase | 0.499 | 0.846 | 3.8E-13 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
glutathione S-transferase zeta 1 | 0.659 | 0.538 | 5.5E-11 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
proprotein convertase subtilisin/kexin type 9 | 0.482 | 0.808 | 2.7E-17 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
aminolevulinate dehydratase | 0.556 | 0.615 | 5.6E-05 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1983 | 1983 | ||||||||
|
ERCC excision repair 1, endonuclease non-catalytic subunit | 0.445 | 0.846 | 1.6E-07 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
alpha fetoprotein | 0.429 | 0.885 | 1.1E-11 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
receptor accessory protein 5 | 0.633 | 0.615 | 7.0E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
tyrosine aminotransferase | 0.492 | 0.846 | 6.9E-03 |
|
disease | 0.300 | None | 0 | 0 |