| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
activator of transcription and developmental regulator AUTS2 | 0.569 | 0.846 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2014 | 2014 | ||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2017 | 2017 | ||||||||
|
ASXL transcriptional regulator 3 | 0.590 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 0.534 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
pleckstrin homology domain interacting protein | 0.595 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
purine rich element binding protein A | 0.644 | 0.500 | 0.94 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transforming growth factor beta receptor 1 | 0.451 | 0.885 | 0.85 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
euchromatic histone lysine methyltransferase 1 | 0.460 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
tripartite motif containing 8 | 0.588 | 0.731 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
OFD1 centriole and centriolar satellite protein | 0.510 | 0.808 | 0.96 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
apoptosis inducing factor mitochondria associated 1 | 0.527 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
choline O-acetyltransferase | 0.520 | 0.808 | 5.6E-11 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type VI alpha 2 chain | 0.599 | 0.692 | 6.5E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
carnitine palmitoyltransferase 2 | 0.542 | 0.769 | 4.6E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 5 | |||||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
activity dependent neuroprotector homeobox | 0.561 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |