| 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 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
FIG4 phosphoinositide 5-phosphatase | 0.551 | 0.731 | 2.3E-34 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphatidylinositol glycan anchor biosynthesis class N | 0.558 | 0.615 | 2.3E-21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
sodium voltage-gated channel alpha subunit 9 | 0.543 | 0.615 | 4.8E-19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
trafficking protein particle complex 9 | 0.603 | 0.577 | 2.3E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ADAMTS like 1 | 0.682 | 0.654 | 3.1E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
carnitine palmitoyltransferase 2 | 0.542 | 0.769 | 4.6E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily C member 9 | 0.552 | 0.692 | 9.4E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphatidylinositol glycan anchor biosynthesis class V | 0.636 | 0.615 | 1.5E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
OTU deubiquitinase 6B | 0.659 | 0.538 | 1.3E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
troponin T3, fast skeletal type | 0.653 | 0.308 | 2.1E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DIMT1 rRNA methyltransferase and ribosome maturation factor | 0.760 | 0.385 | 3.9E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
zinc finger HIT-type containing 3 | 0.666 | 0.462 | 5.5E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
reticulophagy regulator 1 | 0.623 | 0.538 | 6.4E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 25 member 46 | 0.695 | 0.308 | 1.3E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytokine receptor like factor 1 | 0.597 | 0.654 | 4.0E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BRF1 RNA polymerase III transcription initiation factor subunit | 0.700 | 0.462 | 1.0E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
myomaker, myoblast fusion factor | 0.659 | 0.538 | 1.8E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ubiquitin like modifier activating enzyme 5 | 0.582 | 0.731 | 2.5E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
gap junction protein beta 4 | 0.691 | 0.462 | 5.5E-04 |
|
phenotype | 0.100 | None | 0 | 0 |