| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ATP binding cassette subfamily C member 8 | 0.474 | 0.846 | 8.0E-24 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
actin like 6A | 0.678 | 0.346 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
activity dependent neuroprotector homeobox | 0.561 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
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 | |||||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
activator of transcription and developmental regulator AUTS2 | 0.569 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
choline O-acetyltransferase | 0.520 | 0.808 | 5.6E-11 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cytoplasmic linker associated protein 1 | 0.751 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
collagen type V alpha 1 chain | 0.536 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2017 | 2017 | ||||||||
|
dynein axonemal heavy chain 11 | 0.587 | 0.692 | 2.5E-58 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
family with sequence similarity 120A opposite strand | 0.861 | 0.154 | 2.2E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutamate ionotropic receptor NMDA type subunit 2B | 0.510 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
H3.3 histone A | 0.559 | 0.692 | 0.12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
histone deacetylase 8 | 0.511 | 0.885 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
interleukin 1 receptor associated kinase 1 binding protein 1 | 0.780 | 0.346 | 1.4E-06 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
lysine methyltransferase 2A | 0.410 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
laminin subunit alpha 1 | 0.582 | 0.808 | 3.2E-32 |
|
phenotype | 0.100 | None | 0 | 1 |