| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
TSPEAR antisense RNA 1 | 0.821 | 0.269 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
KCNMA1 antisense RNA 1 | 0.705 | 0.654 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
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 | ||||||||
|
laminin subunit alpha 2 | 0.553 | 0.692 | 2.4E-47 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2009 | 2009 | ||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
laminin subunit alpha 1 | 0.582 | 0.808 | 3.2E-32 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
thyroid peroxidase | 0.455 | 0.846 | 1.8E-21 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kynureninase | 0.617 | 0.692 | 4.2E-18 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
hook microtubule tethering protein 2 | 0.659 | 0.654 | 4.6E-18 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
thrombospondin type laminin G domain and EAR repeats | 0.736 | 0.385 | 2.4E-17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
zinc finger protein 142 | 0.861 | 0.192 | 4.8E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
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 | 1 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
thyroid hormone receptor interactor 11 | 0.595 | 0.654 | 1.7E-12 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
adhesion G protein-coupled receptor G1 | 0.590 | 0.654 | 5.3E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
galactosidase beta 1 | 0.448 | 0.808 | 7.9E-10 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
transmembrane and coiled-coil domains 1 | 0.588 | 0.654 | 9.4E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heparan-alpha-glucosaminide N-acetyltransferase | 0.628 | 0.577 | 6.3E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
G protein subunit beta 5 | 0.736 | 0.308 | 6.4E-08 |
|
phenotype | 0.100 | None | 0 | 1 |