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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2004 | 2006 | ||||||||
|
UPF3B regulator of nonsense mediated mRNA decay | 0.619 | 0.615 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2007 | 2012 | ||||||||
|
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 0.592 | 0.731 | 7.7E-19 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2006 | 2014 | ||||||||
|
BR serine/threonine kinase 2 | 0.700 | 0.500 | 0.95 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
ATP binding cassette subfamily C member 9 | 0.552 | 0.692 | 9.4E-09 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
Ras and Rab interactor 2 | 0.623 | 0.692 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
lysine methyltransferase 5B | 0.736 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NPHS1 adhesion molecule, nephrin | 0.597 | 0.615 | 2.5E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
FGF1 intracellular binding protein | 0.674 | 0.538 | 4.4E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ASXL transcriptional regulator 2 | 0.617 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear factor I A | 0.599 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
tRNA isopentenyltransferase 1 | 0.621 | 0.692 | 4.1E-11 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein phosphatase 2 scaffold subunit Aalpha | 0.588 | 0.577 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
TOPBP1 interacting checkpoint and replication regulator | 0.769 | 0.423 | 7.2E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SURF1 cytochrome c oxidase assembly factor | 0.578 | 0.654 | 1.6E-13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 | 0.527 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |