| 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 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
IL12A antisense RNA 1 | 0.633 | 0.654 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
immunoglobulin heavy locus | 0.473 | 0.654 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
RNA component of mitochondrial RNA processing endoribonuclease | 0.519 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
telomerase RNA component | 0.471 | 0.846 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tet methylcytosine dioxygenase 2 | 0.458 | 0.808 | 4.3E-54 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 0.576 | 0.654 | 1.2E-47 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
intraflagellar transport 172 | 0.582 | 0.654 | 3.3E-33 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RPGRIP1 like | 0.534 | 0.769 | 4.1E-31 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nucleotide binding oligomerization domain containing 2 | 0.423 | 0.923 | 2.0E-30 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATPase copper transporting beta | 0.529 | 0.654 | 4.8E-30 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tetratricopeptide repeat domain 37 | 0.626 | 0.654 | 1.7E-29 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NIMA related kinase 4 | 0.751 | 0.192 | 8.7E-27 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
endoplasmic reticulum aminopeptidase 1 | 0.556 | 0.692 | 2.1E-26 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
WD repeat domain 35 | 0.525 | 0.692 | 1.0E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Ski2 like RNA helicase | 0.615 | 0.654 | 1.3E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
methylmalonyl-CoA mutase | 0.534 | 0.731 | 1.7E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
mannosidase alpha class 2B member 1 | 0.674 | 0.462 | 4.8E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 6, chromatin remodeling factor | 0.507 | 0.808 | 5.2E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
vacuolar protein sorting 13 homolog A | 0.650 | 0.577 | 9.3E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily G member 5 | 0.592 | 0.577 | 3.1E-21 |
|
phenotype | 0.100 | None | 0 | 0 |