| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
collagen type VI alpha 2 chain | 0.599 | 0.692 | 6.5E-08 |
|
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 | |||||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
DExH-box helicase 30 | 0.722 | 0.500 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
spartin | 0.588 | 0.654 | 3.0E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
immunoglobulin mu DNA binding protein 2 | 0.636 | 0.615 | 3.0E-16 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
disease | 0.100 | None | 0 | 2 | ||||||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
disease | 0.100 | None | 0 | 3 | ||||||||||||
|
unc-80 homolog, NALCN channel complex subunit | 0.626 | 0.462 | 5.2E-02 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 0.534 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
activator of transcription and developmental regulator AUTS2 | 0.569 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 9 member A6 | 0.516 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
NPC intracellular cholesterol transporter 2 | 0.612 | 0.769 | 1.8E-03 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
peptidase, mitochondrial processing subunit alpha | 0.633 | 0.577 | 3.4E-11 |
|
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 | |||||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2007 | 2007 | ||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
disease | 0.100 | None | 1.000 | 3 | 2 | 2006 | 2011 | ||||||||
|
solute carrier family 6 member 3 | 0.453 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2015 | ||||||||
|
geminin DNA replication inhibitor | 0.554 | 0.808 | 0.11 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
SURF1 cytochrome c oxidase assembly factor | 0.578 | 0.654 | 1.6E-13 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2001 | 2016 |