| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
BIVM-ERCC5 readthrough | 0.736 | 0.308 | 1.3E-15 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
RFT1 homolog | 0.700 | 0.500 | 3.7E-13 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 47 | 0.821 | 0.154 | 0.80 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
tripartite motif containing 8 | 0.588 | 0.731 | 0.99 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
carbonic anhydrase 8 | 0.595 | 0.654 | 8.3E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
coenzyme Q8A | 0.674 | 0.385 | 9.3E-11 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
MRE11 homolog, double strand break repair nuclease | 0.527 | 0.808 | 1.3E-12 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
histidyl-tRNA synthetase 1 | 0.569 | 0.808 | 2.4E-06 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ERCC excision repair 5, endonuclease | 0.499 | 0.731 | 2.7E-13 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 92 | 0.890 | 0.038 | 6.3E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
MAGE family member D2 | 0.691 | 0.462 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
polynucleotide kinase 3'-phosphatase | 0.553 | 0.692 | 3.7E-14 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 0.551 | 0.885 | 2.8E-15 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
mannose-P-dolichol utilization defect 1 | 0.682 | 0.500 | 1.0E-05 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
tripeptidyl peptidase 1 | 0.551 | 0.808 | 6.3E-07 |
|
disease | 0.100 | None | 0 | 4 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
disease | 0.200 | None | 1.000 | 0 | 2 | 1997 | 2012 | ||||||||
|
senataxin | 0.570 | 0.731 | 0.95 |
|
disease | 0.160 | None | 1.000 | 0 | 1 | 2006 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2006 | 2006 | ||||||||
|
glutamate ionotropic receptor delta type subunit 2 | 0.670 | 0.500 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2013 | 2013 | ||||||||
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2013 | 2013 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2014 | 2017 | ||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
disease | 0.120 | None | 1.000 | 1 | 7 | 2015 | 2019 | ||||||||
|
sorting nexin 14 | 0.659 | 0.423 | 6.1E-17 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2015 | 2015 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2015 | 2015 | ||||||||
|
EMC1 antisense RNA 1 | 0.792 | 0.385 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2016 | 2017 |