| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type XVII alpha 1 chain | 0.545 | 0.769 | 2.3E-27 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mitochondrial intermediate peptidase | 0.666 | 0.615 | 1.6E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 94 | 0.628 | 0.654 | 2.8E-14 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2010 | 2017 | ||||||||
|
elongation factor like GTPase 1 | 0.638 | 0.577 | 5.1E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
interleukin 1 receptor associated kinase 1 binding protein 1 | 0.780 | 0.346 | 1.4E-06 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
Rho related BTB domain containing 2 | 0.631 | 0.615 | 1.3E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
RAD51 recombinase | 0.447 | 0.846 | 2.7E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protoporphyrinogen oxidase | 0.678 | 0.500 | 2.8E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
unc-80 homolog, NALCN channel complex subunit | 0.626 | 0.462 | 5.2E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
H3.3 histone A | 0.559 | 0.692 | 0.12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 35 member A2 | 0.525 | 0.808 | 0.72 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
calcium/calmodulin dependent protein kinase II beta | 0.626 | 0.538 | 0.74 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
interferon regulatory factor 2 binding protein like | 0.631 | 0.462 | 0.84 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
polycomb group ring finger 2 | 0.579 | 0.615 | 0.86 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mitogen-activated protein kinase kinase 1 | 0.439 | 0.846 | 0.90 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2006 | 2009 | ||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SRY-box transcription factor 4 | 0.489 | 0.808 | 0.93 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
hydroxymethylbilane synthase | 0.559 | 0.731 | 0.95 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2011 | 2016 | ||||||||
|
KAT8 regulatory NSL complex subunit 1 | 0.592 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein phosphatase 3 catalytic subunit alpha | 0.568 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |