| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RUNX family transcription factor 3 | 0.459 | 0.731 | 0.84 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
TMX2-CTNND1 readthrough (NMD candidate) | 0.538 | 0.769 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | |||||||||
|
beta-1,3-glucuronyltransferase 1 | 0.494 | 0.769 | 0.14 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1987 | 1987 | ||||||||
|
S100 calcium binding protein A10 | 0.528 | 0.769 | 0.17 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
uroporphyrinogen decarboxylase | 0.521 | 0.769 | 1.3E-08 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
aurora kinase B | 0.510 | 0.769 | 4.5E-03 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
SET binding protein 1 | 0.503 | 0.808 | 1.00 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 2013 | 2016 | ||||||||
|
MYCN proto-oncogene, bHLH transcription factor | 0.454 | 0.808 | 0.89 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1994 | 2002 | ||||||||
|
hypertrichosis 2 (generalized, congenital) | 0.392 | 0.808 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2005 | 2012 | |||||||||
|
retrotransposon Gag like 1 | 0.554 | 0.808 | 5.6E-03 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1983 | 1996 | ||||||||
|
chromosome segregation 1 like | 0.521 | 0.808 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
catenin delta 1 | 0.500 | 0.808 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
jagged canonical Notch ligand 1 | 0.429 | 0.808 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
KIT proto-oncogene, receptor tyrosine kinase | 0.366 | 0.808 | 0.98 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
lamin B receptor | 0.473 | 0.808 | 0.18 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
spleen associated tyrosine kinase | 0.475 | 0.808 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
structural maintenance of chromosomes 1A | 0.509 | 0.808 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
protein phosphatase, Mg2+/Mn2+ dependent 1D | 0.513 | 0.808 | 2.2E-11 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
RUNX family transcription factor 1 | 0.425 | 0.808 | 0.65 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
RUNX1 partner transcriptional co-repressor 1 | 0.530 | 0.808 | 0.98 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
RecQ like helicase 4 | 0.496 | 0.808 | 3.3E-35 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
promyelocytic leukemia | 0.477 | 0.846 | 0.21 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2010 | 2015 | ||||||||
|
EPH receptor B2 | 0.374 | 0.846 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
major histocompatibility complex, class I, C | 0.415 | 0.846 | 1.6E-06 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1987 | 1987 |