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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
bromodomain containing 4 | 0.446 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
RAD51 recombinase | 0.447 | 0.846 | 2.7E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
MYCN proto-oncogene, bHLH transcription factor | 0.454 | 0.808 | 0.89 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
thyroid peroxidase | 0.455 | 0.846 | 1.8E-21 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
aquaporin 4 | 0.456 | 0.885 | 2.3E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2010 | 2011 | ||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
euchromatic histone lysine methyltransferase 1 | 0.460 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
mitofusin 2 | 0.471 | 0.846 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATP binding cassette subfamily C member 8 | 0.474 | 0.846 | 8.0E-24 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
SOS Ras/Rac guanine nucleotide exchange factor 1 | 0.485 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
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 | |||||||||||
|
growth hormone receptor | 0.490 | 0.846 | 8.4E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
stromal interaction molecule 1 | 0.501 | 0.808 | 0.78 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2012 | 2015 | ||||||||
|
OFD1 centriole and centriolar satellite protein | 0.510 | 0.808 | 0.96 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
histone deacetylase 8 | 0.511 | 0.885 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
solute carrier family 9 member A6 | 0.516 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NIPBL cohesin loading factor | 0.521 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
WRN RecQ like helicase | 0.524 | 0.808 | 2.6E-34 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 35 member A2 | 0.525 | 0.808 | 0.72 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
filaggrin | 0.525 | 0.846 | 2.9E-04 |
|
phenotype | 0.100 | None | 0 | 1 |