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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
AP4B1 antisense RNA 1 | 0.805 | 0.231 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2011 | 2012 | |||||||||
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
MYCN opposite strand | 0.700 | 0.462 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
abnormal spindle microtubule assembly | 0.526 | 0.769 | 3.4E-49 |
|
phenotype | 0.100 | None | 1.000 | 2 | 5 | 2002 | 2009 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 1.000 | 1 | 5 | 2016 | 2016 | ||||||||
|
collagen type VII alpha 1 chain | 0.545 | 0.808 | 2.4E-40 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 1999 | 2017 | ||||||||
|
RNA polymerase III subunit A | 0.538 | 0.769 | 1.3E-23 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
leucine rich repeat and coiled-coil centrosomal protein 1 | 0.722 | 0.577 | 7.2E-21 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
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 | |||||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
adaptor related protein complex 4 subunit mu 1 | 0.638 | 0.500 | 4.5E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
KIAA0586 | 0.565 | 0.731 | 5.1E-16 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
WW domain containing oxidoreductase | 0.453 | 0.808 | 1.2E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mitochondrial intermediate peptidase | 0.666 | 0.615 | 1.6E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 0.551 | 0.885 | 2.8E-15 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
phenotype | 0.100 | None | 0 | 1 |