| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
tubulin beta class I | 0.603 | 0.692 | 0.98 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
emerin | 0.542 | 0.731 | 0.93 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
diaphanous related formin 1 | 0.623 | 0.654 | 0.92 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
cystatin B | 0.530 | 0.692 | 6.6E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type XVII alpha 1 chain | 0.545 | 0.769 | 2.3E-27 |
|
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 VI alpha 2 chain | 0.599 | 0.692 | 6.5E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
iron-sulfur cluster assembly 2 | 0.743 | 0.231 | 2.4E-08 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ANTXR cell adhesion molecule 2 | 0.568 | 0.808 | 8.7E-02 |
|
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 | |||||||||||
|
mannosidase alpha class 1B member 1 | 0.606 | 0.577 | 1.2E-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 | |||||||||||
|
solute carrier family 9 member A6 | 0.516 | 0.846 | 1.00 |
|
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 | |||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
disease | 0.100 | None | 0 | 3 | ||||||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
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 | |||||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
OTU deubiquitinase 6B | 0.659 | 0.538 | 1.3E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 1 |