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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
EBP cholestenol delta-isomerase | 0.494 | 0.846 | 0.94 |
|
disease | 1.000 | strong | 1.000 | 0 | 0 | 1983 | 2019 | ||||||||
|
cystatin B | 0.530 | 0.692 | 6.6E-03 |
|
disease | 1.000 | None | 0.984 | 0 | 0 | 1994 | 2019 | ||||||||
|
folliculin | 0.537 | 0.885 | 0.79 |
|
disease | 1.000 | definitive | 0.968 | 0 | 0 | 2002 | 2020 | ||||||||
|
estrogen receptor 1 | 0.324 | 0.962 | 1.00 |
|
disease | 1.000 | None | 0.967 | 0 | 0 | 1983 | 2020 | ||||||||
|
exostosin glycosyltransferase 1 | 0.522 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.977 | 0 | 0 | 1989 | 2019 | ||||||||
|
PNKD metallo-beta-lactamase domain containing | 0.615 | 0.615 | 4.1E-08 |
|
disease | 1.000 | None | 0.923 | 0 | 0 | 1997 | 2018 | ||||||||
|
VPS33B late endosome and lysosome associated | 0.644 | 0.654 | 2.4E-16 |
|
disease | 1.000 | None | 1.000 | 0 | 0 | 2004 | 2019 | ||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
disease | 1.000 | None | 1.000 | 0 | 0 | 1991 | 2019 | ||||||||
|
guanylate cyclase 2D, retinal | 0.570 | 0.769 | 6.5E-10 |
|
disease | 1.000 | None | 0.984 | 0 | 0 | 1995 | 2020 | ||||||||
|
hepatocyte nuclear factor 4 alpha | 0.461 | 0.808 | 0.15 |
|
disease | 1.000 | None | 1.000 | 0 | 0 | 1977 | 2019 | ||||||||
|
integrin subunit beta 3 | 0.485 | 0.846 | 1.7E-03 |
|
disease | 1.000 | definitive | 1.000 | 0 | 0 | 1982 | 2020 | ||||||||
|
potassium inwardly rectifying channel subfamily J member 11 | 0.529 | 0.615 | 1.1E-02 |
|
disease | 1.000 | strong | 0.984 | 0 | 0 | 2001 | 2018 | ||||||||
|
KIT proto-oncogene, receptor tyrosine kinase | 0.366 | 0.808 | 0.98 |
|
disease | 1.000 | strong | 0.989 | 0 | 0 | 1992 | 2020 | ||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
disease | 1.000 | None | 1.000 | 0 | 0 | 1994 | 2019 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 1.000 | definitive | 0.983 | 0 | 0 | 1993 | 2020 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | strong | 0.957 | 0 | 0 | 1995 | 2015 | ||||||||
|
neurofibromin 2 | 0.468 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 0 | 0 | 1991 | 2020 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
disease | 1.000 | None | 0.983 | 0 | 0 | 1993 | 2019 | ||||||||
|
SBDS ribosome maturation factor | 0.601 | 0.692 | 6.2E-05 |
|
disease | 1.000 | definitive | 0.972 | 0 | 0 | 2003 | 2019 | ||||||||
|
platelet derived growth factor receptor beta | 0.416 | 0.846 | 0.90 |
|
disease | 1.000 | strong | 1.000 | 0 | 0 | 2013 | 2019 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
disease | 1.000 | None | 0.985 | 0 | 0 | 2001 | 2020 | ||||||||
|
polycystin 2, transient receptor potential cation channel | 0.552 | 0.731 | 1.7E-04 |
|
disease | 1.000 | definitive | 0.984 | 0 | 0 | 1994 | 2020 | ||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
disease | 1.000 | None | 0.982 | 0 | 0 | 1995 | 2019 | ||||||||
|
solute carrier family 39 member 4 | 0.628 | 0.692 | 3.1E-04 |
|
disease | 1.000 | None | 0.957 | 0 | 0 | 2002 | 2019 | ||||||||
|
mitogen-activated protein kinase kinase 1 | 0.439 | 0.846 | 0.90 |
|
disease | 1.000 | definitive | 1.000 | 0 | 0 | 2006 | 2019 |