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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24-dehydrocholesterol reductase | 0.498 | 0.769 | 3.1E-02 |
|
phenotype | 0.130 | None | 1.000 | 0 | 0 | 2017 | 2019 | ||||||||
|
3-hydroxy-3-methylglutaryl-CoA lyase | 0.691 | 0.462 | 2.6E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
3-hydroxy-3-methylglutaryl-CoA synthase 2 | 0.666 | 0.577 | 4.3E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
3-hydroxyisobutyryl-CoA hydrolase | 0.700 | 0.500 | 2.6E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
4-aminobutyrate aminotransferase | 0.628 | 0.538 | 6.3E-03 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 1999 | 2018 | ||||||||
|
4-hydroxyphenylpyruvate dioxygenase | 0.573 | 0.769 | 5.3E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | 0.576 | 0.731 | 3.0E-19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase | 0.502 | 0.808 | 2.2E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
A-kinase anchoring protein 9 | 0.638 | 0.385 | 4.5E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Abelson helper integration site 1 | 0.513 | 0.846 | 1.1E-25 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
acetyl-CoA acetyltransferase 1 | 0.538 | 0.692 | 9.9E-08 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
achaete-scute family bHLH transcription factor 1 | 0.552 | 0.692 | 0.68 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aconitase 2 | 0.619 | 0.654 | 0.21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin alpha 2, smooth muscle | 0.508 | 0.846 | 0.93 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin beta | 0.325 | 0.923 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin gamma 1 | 0.477 | 0.846 | 4.8E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
activator of transcription and developmental regulator AUTS2 | 0.569 | 0.846 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
activin A receptor like type 1 | 0.493 | 0.769 | 9.7E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
activin A receptor type 1 | 0.535 | 0.731 | 0.33 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
activity dependent neuroprotector homeobox | 0.561 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
acyl-CoA dehydrogenase medium chain | 0.638 | 0.462 | 2.1E-12 |
|
phenotype | 0.100 | None | 0 | 0 |