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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
serine/threonine kinase 11 | 0.435 | 0.808 | 0.99 |
|
disease | 1.000 | definitive | 0.992 | 15 | 0 | 1997 | 2019 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 14 | 0 | 1977 | 2020 | ||||||||
|
integrin subunit beta 3 | 0.485 | 0.846 | 1.7E-03 |
|
disease | 1.000 | definitive | 1.000 | 13 | 0 | 1982 | 2020 | ||||||||
|
CCAAT enhancer binding protein alpha | 0.496 | 0.692 | 0.55 |
|
disease | 1.000 | definitive | 0.985 | 12 | 0 | 1992 | 2020 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 1.000 | definitive | 0.994 | 12 | 0 | 1965 | 2019 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 12 | 0 | 1967 | 2020 | ||||||||
|
hydroxymethylbilane synthase | 0.559 | 0.731 | 0.95 |
|
disease | 1.000 | strong | 0.983 | 12 | 0 | 1974 | 2020 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
disease | 1.000 | None | 0.967 | 12 | 0 | 2003 | 2020 | ||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
disease | 1.000 | None | 0.993 | 12 | 0 | 1993 | 2020 | ||||||||
|
von Hippel-Lindau tumor suppressor | 0.443 | 0.846 | 8.0E-02 |
|
disease | 1.000 | None | 0.974 | 12 | 0 | 1976 | 2020 | ||||||||
|
exostosin glycosyltransferase 1 | 0.522 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.977 | 11 | 0 | 1989 | 2019 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
group | 1.000 | strong | 0.955 | 11 | 0 | 1987 | 2020 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
disease | 1.000 | None | 0.978 | 10 | 0 | 1975 | 2019 | ||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 10 | 0 | 1953 | 2019 | ||||||||
|
BLM RecQ like helicase | 0.535 | 0.808 | 1.5E-15 |
|
disease | 1.000 | definitive | 0.994 | 10 | 0 | 1994 | 2020 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 1.000 | definitive | 0.977 | 10 | 0 | 1988 | 2020 | ||||||||
|
endoglin | 0.446 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.991 | 9 | 0 | 1994 | 2019 | ||||||||
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | 0.529 | 0.808 | 1.00 |
|
disease | 1.000 | limited | 0.974 | 9 | 0 | 1999 | 2018 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.994 | 9 | 0 | 1960 | 2020 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 1.000 | None | 0.961 | 9 | 0 | 1972 | 2019 | ||||||||
|
glycogen phosphorylase, muscle associated | 0.650 | 0.577 | 2.0E-13 |
|
disease | 1.000 | None | 0.989 | 9 | 0 | 1983 | 2020 | ||||||||
|
WRN RecQ like helicase | 0.524 | 0.808 | 2.6E-34 |
|
disease | 1.000 | definitive | 0.952 | 9 | 0 | 1993 | 2019 | ||||||||
|
ATP binding cassette subfamily D member 1 | 0.563 | 0.731 | 1.00 |
|
disease | 1.000 | definitive | 0.977 | 8 | 0 | 1981 | 2020 | ||||||||
|
hypoxanthine phosphoribosyltransferase 1 | 0.500 | 0.808 | 0.94 |
|
disease | 1.000 | definitive | 0.985 | 8 | 0 | 1971 | 2020 | ||||||||
|
LIM homeobox transcription factor 1 beta | 0.565 | 0.731 | 0.75 |
|
disease | 1.000 | None | 0.937 | 8 | 0 | 1991 | 2020 |