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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
twist family bHLH transcription factor 2 | 0.518 | 0.731 | 0.56 |
|
disease | 0.730 | strong | 1.000 | 3 | 0 | 1963 | 2019 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.900 | strong | 0.982 | 688 | 87 | 1964 | 2020 | ||||||||
|
endothelin 3 | 0.608 | 0.577 | 2.5E-02 |
|
disease | 0.700 | None | 1.000 | 17 | 2 | 1964 | 2011 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
disease | 1.000 | definitive | 1.000 | 10 | 0 | 1964 | 2015 | ||||||||
|
PROP paired-like homeobox 1 | 0.576 | 0.615 | 8.8E-02 |
|
disease | 0.260 | None | 1.000 | 6 | 0 | 1964 | 2017 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
disease | 0.930 | None | 1.000 | 3 | 0 | 1964 | 2016 | ||||||||
|
tyrosine hydroxylase | 0.462 | 0.885 | 1.7E-06 |
|
disease | 0.720 | definitive | 1.000 | 2 | 0 | 1964 | 2018 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
disease | 0.820 | definitive | 1.000 | 2 | 0 | 1964 | 2015 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
disease | 0.710 | None | 1.000 | 1 | 0 | 1964 | 2015 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 1.000 | definitive | 0.994 | 112 | 12 | 1965 | 2019 | ||||||||
|
leptin receptor | 0.433 | 0.808 | 0.99 |
|
disease | 0.700 | None | 0.930 | 160 | 11 | 1966 | 2019 | ||||||||
|
endothelin receptor type B | 0.470 | 0.846 | 9.2E-03 |
|
disease | 0.700 | None | 1.000 | 45 | 9 | 1966 | 2019 | ||||||||
|
leptin receptor | 0.433 | 0.808 | 0.99 |
|
disease | 0.600 | None | 0.975 | 42 | 11 | 1966 | 2019 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
disease | 0.700 | None | 0.974 | 13 | 1 | 1966 | 2020 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
disease | 0.860 | None | 0.960 | 6 | 0 | 1966 | 2016 | ||||||||
|
forkhead box N1 | 0.615 | 0.654 | 0.94 |
|
disease | 0.230 | None | 1.000 | 3 | 0 | 1966 | 2020 | ||||||||
|
glutamate-ammonia ligase | 0.513 | 0.731 | 1.00 |
|
disease | 0.720 | limited | 1.000 | 2 | 2 | 1966 | 2019 | ||||||||
|
forkhead box N1 | 0.615 | 0.654 | 0.94 |
|
disease | 0.910 | None | 1.000 | 1 | 0 | 1966 | 2014 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 414 | 35 | 1967 | 2020 | ||||||||
|
lecithin-cholesterol acyltransferase | 0.588 | 0.654 | 8.1E-02 |
|
disease | 1.000 | None | 0.974 | 20 | 4 | 1967 | 2019 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
disease | 1.000 | None | 1.000 | 18 | 1 | 1967 | 2019 | ||||||||
|
butyrylcholinesterase | 0.447 | 0.923 | 1.1E-13 |
|
phenotype | 0.400 | None | 1.000 | 16 | 1 | 1967 | 2018 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
disease | 0.940 | None | 1.000 | 4 | 0 | 1967 | 2016 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
disease | 0.330 | None | 1.000 | 3 | 1 | 1967 | 2019 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 0.110 | None | 1.000 | 1 | 0 | 1967 | 2017 |