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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
disease | 0.100 | None | 0 | 2 | ||||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
disease | 0.100 | None | 0 | 3 | ||||||||||||
|
interferon induced with helicase C domain 1 | 0.471 | 0.808 | 7.0E-44 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type VII alpha 1 chain | 0.545 | 0.808 | 2.4E-40 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
collagen type XVII alpha 1 chain | 0.545 | 0.769 | 2.3E-27 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Abelson helper integration site 1 | 0.513 | 0.846 | 1.1E-25 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
erythrocyte membrane protein band 4.1 like 4A | 0.890 | 0.231 | 3.5E-21 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
disease | 0.100 | None | 0 | 3 | |||||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
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 | |||||||||||
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 0.551 | 0.885 | 2.8E-15 |
|
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 | ||||||||
|
carnitine O-acetyltransferase | 0.656 | 0.577 | 9.5E-12 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2020 | 2020 | ||||||||
|
exosome component 9 | 0.705 | 0.423 | 1.8E-11 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
peptidase, mitochondrial processing subunit alpha | 0.633 | 0.577 | 3.4E-11 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
mannosidase alpha class 1B member 1 | 0.606 | 0.577 | 1.2E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 0.656 | 0.423 | 1.6E-08 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
iron-sulfur cluster assembly 2 | 0.743 | 0.231 | 2.4E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
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 | |||||||||||
|
OTU deubiquitinase 6B | 0.659 | 0.538 | 1.3E-07 |
|
disease | 0.100 | None | 0 | 1 |