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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
glycine amidinotransferase | 0.666 | 0.615 | 5.1E-02 |
|
disease | 0.760 | definitive | 1.000 | 6 | 0 | 1940 | 2018 | ||||||||
|
guanidinoacetate N-methyltransferase | 0.691 | 0.269 | 9.5E-03 |
|
disease | 0.940 | definitive | 1.000 | 4 | 0 | 1940 | 2017 | ||||||||
|
arginase 1 | 0.476 | 0.846 | 3.6E-04 |
|
phenotype | 1.000 | definitive | 1.000 | 23 | 2 | 1944 | 2020 | ||||||||
|
cyclin dependent kinase inhibitor 2A | 0.300 | 0.885 | 0.39 |
|
disease | 0.500 | None | 0.971 | 78 | 7 | 1947 | 2019 | ||||||||
|
methionine adenosyltransferase 1A | 0.582 | 0.577 | 8.1E-04 |
|
disease | 0.780 | definitive | 1.000 | 8 | 1 | 1951 | 2019 | ||||||||
|
Zic family member 3 | 0.587 | 0.423 | 0.92 |
|
disease | 0.520 | strong | 0.889 | 2 | 0 | 1952 | 2018 | ||||||||
|
Zic family member 3 | 0.587 | 0.423 | 0.92 |
|
disease | 0.910 | None | 1.000 | 1 | 0 | 1952 | 2014 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 417 | 9 | 1953 | 2020 | ||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 87 | 5 | 1953 | 2019 | ||||||||
|
glutathione synthetase | 0.626 | 0.731 | 1.8E-06 |
|
disease | 0.740 | definitive | 0.944 | 4 | 0 | 1953 | 2019 | ||||||||
|
homogentisate 1,2-dioxygenase | 0.631 | 0.577 | 3.0E-08 |
|
disease | 1.000 | definitive | 0.982 | 39 | 4 | 1955 | 2019 | ||||||||
|
laminin subunit alpha 2 | 0.553 | 0.692 | 2.4E-47 |
|
disease | 1.000 | strong | 1.000 | 21 | 0 | 1955 | 2018 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
disease | 1.000 | definitive | 0.990 | 29 | 0 | 1956 | 2020 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
disease | 0.700 | definitive | 0.974 | 21 | 2 | 1956 | 2017 | ||||||||
|
hemoglobin subunit beta | 0.494 | 0.808 | 1.2E-09 |
|
disease | 0.800 | None | 0.994 | 142 | 2 | 1957 | 2020 | ||||||||
|
butyrylcholinesterase | 0.447 | 0.923 | 1.1E-13 |
|
disease | 0.720 | None | 1.000 | 2 | 0 | 1957 | 2016 | ||||||||
|
acid phosphatase 5, tartrate resistant | 0.561 | 0.731 | 7.9E-02 |
|
disease | 0.720 | None | 1.000 | 2 | 0 | 1958 | 2018 | ||||||||
|
cystathionine beta-synthase | 0.465 | 0.885 | 3.1E-05 |
|
disease | 0.800 | definitive | 1.000 | 30 | 10 | 1959 | 2019 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.994 | 142 | 5 | 1960 | 2020 | ||||||||
|
aldehyde dehydrogenase 4 family member A1 | 0.792 | 0.231 | 1.4E-05 |
|
disease | 0.730 | moderate | 1.000 | 3 | 0 | 1960 | 2016 | ||||||||
|
hemoglobin subunit beta | 0.494 | 0.808 | 1.2E-09 |
|
disease | 0.800 | strong | 0.994 | 189 | 4 | 1961 | 2019 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 1.000 | definitive | 0.979 | 158 | 1 | 1962 | 2019 | ||||||||
|
porcupine O-acyltransferase | 0.545 | 0.692 | 1.00 |
|
disease | 1.000 | None | 0.968 | 27 | 1 | 1962 | 2019 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 1.000 | None | 1.000 | 17 | 0 | 1962 | 2017 | ||||||||
|
twist family bHLH transcription factor 2 | 0.518 | 0.731 | 0.56 |
|
disease | 0.770 | None | 1.000 | 7 | 2 | 1963 | 2016 |