| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
disease | 0.100 | None | 0 | 2 | ||||||||||||
|
dynein axonemal heavy chain 7 | 0.769 | 0.346 | 1.4E-71 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
disease | 0.200 | None | 1.000 | 1 | 2 | 2004 | 2019 | ||||||||
|
zinc finger RANBP2-type containing 3 | 0.780 | 0.577 | 4.2E-21 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
adaptor related protein complex 4 subunit mu 1 | 0.638 | 0.500 | 4.5E-17 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
glutaminyl-tRNA synthetase 1 | 0.716 | 0.231 | 2.7E-13 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
rogdi atypical leucine zipper | 0.663 | 0.462 | 2.6E-09 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 0.656 | 0.423 | 1.6E-08 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
RAB3 GTPase activating protein catalytic subunit 1 | 0.566 | 0.692 | 1.5E-07 |
|
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 | |||||||||||
|
mediator complex subunit 25 | 0.582 | 0.654 | 8.4E-07 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
AAR2 splicing factor | 0.839 | 0.192 | 8.3E-06 |
|
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 | |||||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ubiquitin like modifier activating enzyme 5 | 0.582 | 0.731 | 2.5E-04 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
ribosomal protein S6 kinase C1 | 0.821 | 0.231 | 1.3E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
phosphodiesterase 6D | 0.623 | 0.577 | 6.4E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
unc-80 homolog, NALCN channel complex subunit | 0.626 | 0.462 | 5.2E-02 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
stromal interaction molecule 1 | 0.501 | 0.808 | 0.78 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 47 | 0.821 | 0.154 | 0.80 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
disease | 0.120 | None | 1.000 | 0 | 1 | 2010 | 2013 | ||||||||
|
pyruvate dehydrogenase E1 subunit alpha 1 | 0.581 | 0.538 | 0.99 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
disease | 0.100 | None | 0 | 1 |