| 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 | ||||||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
disease | 0.100 | None | 0 | 1 | ||||||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
disease | 0.100 | None | 1.000 | 1 | 8 | 2016 | 2016 | ||||||||
|
tyrosinase | 0.473 | 0.808 | 5.0E-32 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
disease | 0.100 | None | 0 | 4 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
cyclic nucleotide gated channel subunit alpha 3 | 0.650 | 0.154 | 8.0E-20 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2008 | 2008 | ||||||||
|
cyclic nucleotide gated channel subunit beta 3 | 0.633 | 0.192 | 7.8E-19 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 9 | 0.615 | 0.577 | 4.2E-17 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
KIAA0586 | 0.565 | 0.731 | 5.1E-16 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
rubicon autophagy regulator | 0.716 | 0.423 | 1.4E-13 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
coenzyme Q8A | 0.674 | 0.385 | 9.3E-11 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type XVIII alpha 1 chain | 0.449 | 0.808 | 1.7E-10 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
calpain 1 | 0.539 | 0.808 | 5.9E-10 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
guanylate cyclase 2D, retinal | 0.570 | 0.769 | 6.5E-10 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2000 | 2000 | ||||||||
|
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 | |||||||||||
|
elongator acetyltransferase complex subunit 4 | 0.666 | 0.462 | 1.2E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 231 | 0.554 | 0.692 | 3.1E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
DIMT1 rRNA methyltransferase and ribosome maturation factor | 0.760 | 0.385 | 3.9E-07 |
|
disease | 0.100 | None | 0 | 1 |