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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
prolyl 4-hydroxylase, transmembrane | 0.666 | 0.500 | 3.9E-09 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 2014 | 2019 | ||||||||
|
transient receptor potential cation channel subfamily M member 3 | 0.663 | 0.769 | 5.7E-07 |
|
phenotype | 0.400 | moderate | 1.000 | 2 | 0 | 2017 | 2019 | ||||||||
|
transformation/transcription domain associated protein | 0.572 | 0.692 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2017 | 2018 | ||||||||
|
calcium voltage-gated channel subunit alpha1 B | 0.650 | 0.577 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 2015 | 2019 | ||||||||
|
phosphate cytidylyltransferase 2, ethanolamine | 0.821 | 0.192 | 8.6E-04 |
|
phenotype | 0.300 | strong | 1.000 | 2 | 0 | 2012 | 2019 | ||||||||
|
lysyl-tRNA synthetase 1 | 0.636 | 0.577 | 4.2E-09 |
|
phenotype | 0.300 | strong | 1.000 | 2 | 0 | 2015 | 2017 | ||||||||
|
microtubule actin crosslinking factor 1 | 0.659 | 0.538 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 2006 | 2018 | ||||||||
|
transmembrane protein 70 | 0.636 | 0.654 | 2.9E-02 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
ADP-ribosylserine hydrolase | 0.743 | 0.308 | 5.8E-04 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
lysine methyltransferase 2E | 0.682 | 0.423 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
protein phosphatase 2 catalytic subunit alpha | 0.608 | 0.769 | 0.99 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
zinc finger MIZ-type containing 1 | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
fatty acid 2-hydroxylase | 0.573 | 0.654 | 0.15 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
RAS like proto-oncogene A | 0.656 | 0.577 | 0.97 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
phenotype | 0.460 | strong | 1.000 | 1 | 0 | 2006 | 2019 | ||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
alpha-N-acetylgalactosaminidase | 0.647 | 0.538 | 1.8E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 1 | 0.601 | 0.808 | 1.00 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 2018 | 2020 | ||||||||
|
notch receptor 3 | 0.435 | 0.808 | 0.41 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2009 | 2018 | ||||||||
|
N-ethylmaleimide sensitive factor, vesicle fusing ATPase | 0.659 | 0.577 | 1.8E-02 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
potassium two pore domain channel subfamily K member 4 | 0.743 | 0.385 | 5.7E-03 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
thioredoxin related transmembrane protein 2 | 0.821 | 0.231 | 0.65 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 |