| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ACD shelterin complex subunit and telomerase recruitment factor | 0.603 | 0.731 | 1.1E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily B member 6 (Langereis blood group) | 0.431 | 0.885 | 8.6E-19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BRCA1 associated protein 1 | 0.454 | 0.731 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cadherin 3 | 0.560 | 0.615 | 2.8E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cyclin dependent kinase 4 | 0.412 | 0.808 | 6.3E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cyclin dependent kinase inhibitor 2A | 0.300 | 0.885 | 0.39 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cyclin dependent kinase inhibitor 2B | 0.417 | 0.769 | 7.3E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
damage specific DNA binding protein 2 | 0.576 | 0.654 | 7.4E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 2, TFIIH core complex helicase subunit | 0.420 | 0.846 | 7.1E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 3, TFIIH core complex helicase subunit | 0.504 | 0.846 | 3.4E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 4, endonuclease catalytic subunit | 0.468 | 0.846 | 1.4E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 5, endonuclease | 0.499 | 0.731 | 2.7E-13 |
|
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 | |||||||||||
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 0.551 | 0.885 | 2.8E-15 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
G protein-coupled receptor 143 | 0.659 | 0.385 | 0.93 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | 0.636 | 0.692 | 1.3E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
melanocortin 1 receptor | 0.524 | 0.808 | 8.1E-11 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
mitogen-activated protein kinase kinase kinase 7 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
O-6-methylguanine-DNA methyltransferase | 0.412 | 0.885 | 1.2E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
OCA2 melanosomal transmembrane protein | 0.539 | 0.808 | 2.9E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protection of telomeres 1 | 0.560 | 0.731 | 0.85 |
|
phenotype | 0.100 | None | 0 | 0 |