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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2017 | 2017 | ||||||||
|
solute carrier family 35 member A2 | 0.525 | 0.808 | 0.72 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
RAD21 cohesin complex component | 0.528 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
UTP23 small subunit processome component | 0.711 | 0.385 | 8.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
tubulin beta 6 class V | 0.686 | 0.462 | 1.7E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
histone deacetylase 8 | 0.511 | 0.885 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 20 member 2 | 0.638 | 0.577 | 0.97 |
|
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 | |||||||||||
|
protein phosphatase 3 catalytic subunit alpha | 0.568 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 0.434 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATP binding cassette subfamily C member 8 | 0.474 | 0.846 | 8.0E-24 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dynein axonemal heavy chain 11 | 0.587 | 0.692 | 2.5E-58 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
actin like 6A | 0.678 | 0.346 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
structural maintenance of chromosomes 1A | 0.509 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ubiquitin like modifier activating enzyme 5 | 0.582 | 0.731 | 2.5E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ALG13 UDP-N-acetylglucosaminyltransferase subunit | 0.631 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG8 alpha-1,3-glucosyltransferase | 0.659 | 0.577 | 1.2E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
polycomb group ring finger 2 | 0.579 | 0.615 | 0.86 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 94 | 0.628 | 0.654 | 2.8E-14 |
|
phenotype | 0.100 | None | 0 | 2 |