| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
XPA, DNA damage recognition and repair factor | 0.520 | 0.846 | 7.9E-05 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
upstream binding transcription factor | 0.705 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
tripeptidyl peptidase 1 | 0.551 | 0.808 | 6.3E-07 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
transmembrane protein 186 | 1.000 | 0.077 | 5.2E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
transcription factor 20 | 0.644 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
T-box brain transcription factor 1 | 0.666 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
TATA-box binding protein associated factor 1 | 0.581 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
synapsin III | 0.686 | 0.462 | 1.9E-03 |
|
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 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SRY-box transcription factor 5 | 0.545 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
SRY-box transcription factor 11 | 0.494 | 0.808 | 0.86 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
survival of motor neuron 2, centromeric | 0.459 | 0.769 | 0.10 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2007 | 2013 | ||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2007 | 2013 | ||||||||
|
solute carrier family 9 member A6 | 0.516 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 19 member 3 | 0.610 | 0.692 | 0.10 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
surfactant protein C | 0.556 | 0.692 | 7.5E-04 |
|
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 |