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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 1.000 | definitive | 0.994 | 16 | 0 | 1965 | 2019 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
disease | 1.000 | definitive | 1.000 | 15 | 0 | 1964 | 2015 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 1.000 | definitive | 0.985 | 15 | 0 | 1991 | 2020 | ||||||||
|
CCAAT enhancer binding protein alpha | 0.496 | 0.692 | 0.55 |
|
disease | 1.000 | definitive | 0.985 | 14 | 0 | 1992 | 2020 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
disease | 1.000 | definitive | 0.974 | 13 | 0 | 1982 | 2020 | ||||||||
|
KIT proto-oncogene, receptor tyrosine kinase | 0.366 | 0.808 | 0.98 |
|
group | 1.000 | definitive | 0.951 | 13 | 0 | 1995 | 2020 | ||||||||
|
norrin cystine knot growth factor NDP | 0.566 | 0.692 | 0.65 |
|
disease | 1.000 | definitive | 1.000 | 13 | 0 | 1992 | 2019 | ||||||||
|
ornithine aminotransferase | 0.593 | 0.731 | 7.7E-07 |
|
disease | 1.000 | definitive | 0.962 | 13 | 0 | 1981 | 2019 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 13 | 0 | 2001 | 2020 | ||||||||
|
gap junction protein beta 6 | 0.528 | 0.808 | 1.7E-07 |
|
disease | 1.000 | definitive | 1.000 | 12 | 0 | 1998 | 2019 | ||||||||
|
glycoprotein Ib platelet subunit beta | 0.524 | 0.769 | 0.51 |
|
disease | 1.000 | definitive | 1.000 | 12 | 0 | 1988 | 2019 | ||||||||
|
NADH:ubiquinone oxidoreductase subunit S4 | 0.587 | 0.808 | 3.1E-04 |
|
disease | 1.000 | definitive | 0.968 | 12 | 0 | 2001 | 2019 | ||||||||
|
polycystin 2, transient receptor potential cation channel | 0.552 | 0.731 | 1.7E-04 |
|
disease | 1.000 | definitive | 0.984 | 12 | 0 | 1994 | 2020 | ||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 11 | 0 | 1980 | 2019 | ||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
disease | 1.000 | definitive | 0.987 | 11 | 0 | 1987 | 2018 | ||||||||
|
coagulation factor VIII | 0.542 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.983 | 11 | 0 | 1977 | 2020 | ||||||||
|
fumarylacetoacetate hydrolase | 0.612 | 0.538 | 4.0E-17 |
|
disease | 1.000 | definitive | 0.990 | 11 | 0 | 1981 | 2019 | ||||||||
|
GATA binding protein 3 | 0.415 | 0.846 | 0.90 |
|
disease | 1.000 | definitive | 0.957 | 11 | 0 | 1995 | 2019 | ||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
disease | 1.000 | definitive | 1.000 | 11 | 0 | 1988 | 2020 | ||||||||
|
myosin heavy chain 9 | 0.505 | 0.808 | 1.00 |
|
phenotype | 1.000 | definitive | 1.000 | 11 | 0 | 1998 | 2020 | ||||||||
|
myosin heavy chain 9 | 0.505 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 0.984 | 11 | 0 | 1998 | 2019 | ||||||||
|
neurofibromin 2 | 0.468 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 11 | 0 | 1991 | 2020 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | definitive | 0.982 | 11 | 0 | 2001 | 2019 | ||||||||
|
clarin 1 | 0.633 | 0.423 | 1.7E-08 |
|
disease | 1.000 | definitive | 1.000 | 11 | 0 | 1996 | 2020 | ||||||||
|
SH3 and multiple ankyrin repeat domains 3 | 0.550 | 0.731 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 11 | 0 | 2001 | 2020 |