| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
methylmalonyl-CoA mutase | 0.534 | 0.731 | 1.7E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
dihydropyrimidine dehydrogenase | 0.493 | 0.846 | 3.4E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytosolic thiouridylase subunit 2 | 0.695 | 0.423 | 4.0E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
mannosidase alpha class 2B member 1 | 0.674 | 0.462 | 4.8E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
laminin subunit beta 1 | 0.615 | 0.654 | 5.1E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 6, chromatin remodeling factor | 0.507 | 0.808 | 5.2E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphorylase kinase regulatory subunit beta | 0.769 | 0.269 | 1.6E-21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
isoleucyl-tRNA synthetase 1 | 0.606 | 0.692 | 1.7E-21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
elongator complex protein 1 | 0.579 | 0.769 | 2.1E-21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphatidylinositol glycan anchor biosynthesis class N | 0.558 | 0.615 | 2.3E-21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DEAD/H-box helicase 11 | 0.674 | 0.577 | 2.3E-21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
KIAA1109 | 0.603 | 0.654 | 3.3E-21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
elaC ribonuclease Z 2 | 0.670 | 0.346 | 1.7E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
collagen type VI alpha 3 chain | 0.563 | 0.769 | 1.8E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 0.537 | 0.538 | 1.9E-20 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
ERCC excision repair 2, TFIIH core complex helicase subunit | 0.420 | 0.846 | 7.1E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
laminin subunit beta 2 | 0.601 | 0.654 | 2.5E-19 |
|
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 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
C2 domain containing 3 centriole elongation regulator | 0.636 | 0.538 | 4.4E-19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sodium voltage-gated channel alpha subunit 9 | 0.543 | 0.615 | 4.8E-19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DNA replication helicase/nuclease 2 | 0.626 | 0.731 | 1.3E-18 |
|
phenotype | 0.100 | None | 0 | 0 |