| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2012 | 2015 | ||||||||
|
NIPBL cohesin loading factor | 0.521 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 0.534 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
Snf2 related CREBBP activator protein | 0.610 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
zinc finger C3H1-type containing | 0.839 | 0.115 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
AT-rich interaction domain 2 | 0.543 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DExH-box helicase 30 | 0.722 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
pogo transposable element derived with ZNF domain | 0.599 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ubiquitin protein ligase E3 component n-recognin 4 | 0.760 | 0.269 | 1.00 |
|
phenotype | 0.100 | None | 0 | 5 | |||||||||||
|
ubiquitin specific peptidase 24 | 0.760 | 0.231 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
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 | |||||||||||
|
bromodomain containing 4 | 0.446 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
microtubule actin crosslinking factor 1 | 0.659 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
AT-hook DNA binding motif containing 1 | 0.700 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
arginine-glutamic acid dipeptide repeats | 0.526 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ring finger protein 31 | 0.736 | 0.346 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |