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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.140 | None | 0.750 | 0 | 2 | 2011 | 2018 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.140 | None | 0.857 | 3 | 1 | 2006 | 2019 | ||||||||
|
mechanistic target of rapamycin kinase | 0.343 | 0.885 | 1.00 |
|
phenotype | 0.200 | None | 0.957 | 0 | 3 | 2012 | 2020 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.700 | strong | 1.000 | 3 | 4 | 1998 | 2018 | ||||||||
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.500 | None | 0.923 | 6 | 6 | 2000 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
phenotype | 0.460 | strong | 1.000 | 0 | 1 | 2006 | 2019 | ||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 0.434 | 0.846 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1A | 0.455 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.430 | None | 1.000 | 76 | 11 | 2001 | 2019 | ||||||||
|
cell division cycle 42 | 0.458 | 0.846 | 0.79 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
forkhead box P1 | 0.460 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 6 member 8 | 0.476 | 0.846 | 1.00 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2002 | 2019 | ||||||||
|
phospholipase A2 group VI | 0.476 | 0.846 | 2.5E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mediator complex subunit 12 | 0.476 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2017 | 2017 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.200 | None | 0.932 | 0 | 15 | 2002 | 2020 | ||||||||
|
neurotrophic receptor tyrosine kinase 2 | 0.479 | 0.808 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2017 | 2017 | ||||||||
|
synthesis of cytochrome C oxidase 2 | 0.479 | 0.846 | 7.5E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 1 |