| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
disease | 0.100 | None | 1.000 | 1 | 8 | 2016 | 2016 | ||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
disease | 0.100 | None | 0 | 4 | |||||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
rogdi atypical leucine zipper | 0.663 | 0.462 | 2.6E-09 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
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 | |||||||||||
|
collagen type XVIII alpha 1 chain | 0.449 | 0.808 | 1.7E-10 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
tyrosinase | 0.473 | 0.808 | 5.0E-32 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
interferon regulatory factor 2 binding protein like | 0.631 | 0.462 | 0.84 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
calcium/calmodulin dependent serine protein kinase | 0.538 | 0.808 | 1.00 |
|
disease | 0.140 | None | 1.000 | 0 | 2 | 2010 | 2017 | ||||||||
|
rubicon autophagy regulator | 0.716 | 0.423 | 1.4E-13 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
caseinolytic mitochondrial matrix peptidase chaperone subunit B | 0.631 | 0.654 | 5.0E-04 |
|
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 | |||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
disease | 0.100 | None | 0 | 2 | ||||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2015 | ||||||||
|
exocyst complex component 6B | 0.682 | 0.577 | 0.12 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2007 | 2007 | ||||||||
|
adhesion G protein-coupled receptor B2 | 0.890 | 0.192 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
abhydrolase domain containing 12 | 0.666 | 0.385 | 1.9E-05 |
|
disease | 0.400 | strong | 1.000 | 1 | 1 | 2014 | 2018 | ||||||||
|
tubulin beta 4A class IVa | 0.608 | 0.615 | 0.11 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2014 | 2014 | ||||||||
|
synaptotagmin 1 | 0.412 | 0.846 | 0.60 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
calpain 1 | 0.539 | 0.808 | 5.9E-10 |
|
disease | 0.100 | None | 0 | 1 |