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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
immunoglobulin heavy variable 1-12 (pseudogene) | 0.569 | 0.654 |
|
phenotype | 0.100 | None | 1.000 | 38 | 0 | 1984 | 2019 | |||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
phenotype | 0.100 | None | 0.909 | 11 | 0 | 1992 | 2018 | ||||||||
|
MYC proto-oncogene, bHLH transcription factor | 0.344 | 0.923 | 1.00 |
|
phenotype | 0.070 | None | 1.000 | 7 | 0 | 1999 | 2019 | ||||||||
|
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 | ||||||||
|
BCR activator of RhoGEF and GTPase | 0.431 | 0.885 | 0.99 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1987 | 2010 | ||||||||
|
paternally expressed 10 | 0.597 | 0.615 | 0.87 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1983 | 1996 | ||||||||
|
SET domain and mariner transposase fusion gene | 0.617 | 0.692 | 1.0E-04 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1983 | 1996 | ||||||||
|
hypertrichosis 2 (generalized, congenital) | 0.392 | 0.808 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2005 | 2012 | |||||||||
|
ras homolog family member J | 0.686 | 0.308 | 6.4E-03 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1997 | 2002 | ||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2017 | 2019 | ||||||||
|
retrotransposon Gag like 1 | 0.554 | 0.808 | 5.6E-03 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 1983 | 1996 | ||||||||
|
promyelocytic leukemia | 0.477 | 0.846 | 0.21 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2010 | 2015 | ||||||||
|
SBDS ribosome maturation factor | 0.601 | 0.692 | 6.2E-05 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2004 | 2009 | ||||||||
|
mitogen-activated protein kinase 1 | 0.330 | 0.923 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
IMP U3 small nucleolar ribonucleoprotein 3 | 0.566 | 0.462 | 1.5E-07 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
RecQ like helicase 4 | 0.496 | 0.808 | 3.3E-35 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
CD38 molecule | 0.407 | 0.885 | 2.3E-06 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2002 | 2002 | ||||||||
|
BCAR1 scaffold protein, Cas family member | 0.518 | 0.846 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
T cell leukemia/lymphoma 1B | 0.561 | 0.500 | 1.0E-02 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | 0.320 | 0.885 | 1.4E-06 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
endonuclease, poly(U) specific | 0.682 | 0.423 | 3.2E-14 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | 0.319 | 0.885 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | 0.322 | 0.885 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 |