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 | 3 | ||||||||||||
|
mannosidase alpha class 1B member 1 | 0.606 | 0.577 | 1.2E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
peptidase, mitochondrial processing subunit alpha | 0.633 | 0.577 | 3.4E-11 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
THO complex 6 | 0.705 | 0.577 | 4.8E-04 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
phosphatidylinositol glycan anchor biosynthesis class Q | 0.610 | 0.577 | 1.4E-06 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
immunoglobulin mu DNA binding protein 2 | 0.636 | 0.615 | 3.0E-16 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
mitochondrial intermediate peptidase | 0.666 | 0.615 | 1.6E-15 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Wnt family member 2B | 0.644 | 0.615 | 3.8E-02 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
SURF1 cytochrome c oxidase assembly factor | 0.578 | 0.654 | 1.6E-13 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2001 | 2016 | ||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
diaphanous related formin 1 | 0.623 | 0.654 | 0.92 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
spartin | 0.588 | 0.654 | 3.0E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type VI alpha 2 chain | 0.599 | 0.692 | 6.5E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
cystatin B | 0.530 | 0.692 | 6.6E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
tubulin beta class I | 0.603 | 0.692 | 0.98 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
steroid 5 alpha-reductase 3 | 0.604 | 0.692 | 2.5E-04 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
malate dehydrogenase 2 | 0.595 | 0.731 | 6.7E-03 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
emerin | 0.542 | 0.731 | 0.93 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
disease | 0.100 | None | 0 | 2 |