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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
disease | 0.120 | None | 1.000 | 0 | 1 | 2010 | 2013 | ||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
glutaminyl-tRNA synthetase 1 | 0.716 | 0.231 | 2.7E-13 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
dynein axonemal heavy chain 7 | 0.769 | 0.346 | 1.4E-71 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 47 | 0.821 | 0.154 | 0.80 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
stromal interaction molecule 1 | 0.501 | 0.808 | 0.78 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
rogdi atypical leucine zipper | 0.663 | 0.462 | 2.6E-09 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
component of oligomeric golgi complex 7 | 0.686 | 0.500 | 2.6E-07 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
adaptor related protein complex 4 subunit mu 1 | 0.638 | 0.500 | 4.5E-17 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2 | 0.568 | 0.692 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
zinc finger RANBP2-type containing 3 | 0.780 | 0.577 | 4.2E-21 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1A | 0.455 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
mediator complex subunit 25 | 0.582 | 0.654 | 8.4E-07 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
ubiquitin like modifier activating enzyme 5 | 0.582 | 0.731 | 2.5E-04 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
pyruvate dehydrogenase E1 subunit alpha 1 | 0.581 | 0.538 | 0.99 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
phosphodiesterase 6D | 0.623 | 0.577 | 6.4E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
disease | 0.100 | None | 0 | 2 |