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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 1.000 | None | 0.961 | 6 | 0 | 1972 | 2019 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.972 | 6 | 0 | 2003 | 2019 | ||||||||
|
XPA, DNA damage recognition and repair factor | 0.520 | 0.846 | 7.9E-05 |
|
disease | 1.000 | definitive | 0.968 | 6 | 0 | 1978 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
disease | 1.000 | None | 0.988 | 6 | 0 | 1996 | 2019 | ||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
disease | 1.000 | definitive | 1.000 | 6 | 0 | 1998 | 2020 | ||||||||
|
calcium sensing receptor | 0.410 | 0.846 | 4.7E-02 |
|
disease | 1.000 | None | 0.993 | 6 | 0 | 1976 | 2020 | ||||||||
|
solute carrier family 19 member 2 | 0.636 | 0.692 | 4.3E-04 |
|
disease | 1.000 | None | 1.000 | 5 | 0 | 1997 | 2019 | ||||||||
|
EBP cholestenol delta-isomerase | 0.494 | 0.846 | 0.94 |
|
disease | 1.000 | strong | 1.000 | 5 | 0 | 1983 | 2019 | ||||||||
|
fibrillin 2 | 0.505 | 0.808 | 1.00 |
|
disease | 1.000 | strong | 0.979 | 5 | 0 | 1973 | 2019 | ||||||||
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
disease | 1.000 | None | 1.000 | 5 | 0 | 1994 | 2019 | ||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
disease | 1.000 | None | 0.983 | 5 | 0 | 1994 | 2019 | ||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
disease | 1.000 | None | 1.000 | 5 | 0 | 1988 | 2019 | ||||||||
|
1,4-alpha-glucan branching enzyme 1 | 0.612 | 0.654 | 1.1E-12 |
|
disease | 1.000 | None | 1.000 | 5 | 0 | 1996 | 2017 | ||||||||
|
GLI family zinc finger 3 | 0.436 | 0.846 | 1.00 |
|
disease | 1.000 | strong | 0.917 | 5 | 0 | 1991 | 2019 | ||||||||
|
arginase 1 | 0.476 | 0.846 | 3.6E-04 |
|
phenotype | 1.000 | definitive | 1.000 | 5 | 0 | 1944 | 2020 | ||||||||
|
L1 cell adhesion molecule | 0.475 | 0.769 | 1.00 |
|
disease | 1.000 | None | 0.984 | 5 | 0 | 1986 | 2020 | ||||||||
|
paired box 2 | 0.495 | 0.731 | 0.67 |
|
disease | 1.000 | strong | 1.000 | 5 | 0 | 1995 | 2019 | ||||||||
|
paired box 6 | 0.450 | 0.769 | 1.00 |
|
disease | 1.000 | None | 0.984 | 5 | 0 | 1978 | 2020 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 1.000 | None | 1.000 | 5 | 0 | 1962 | 2017 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
disease | 1.000 | None | 0.992 | 5 | 0 | 2001 | 2019 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.981 | 5 | 0 | 2004 | 2020 | ||||||||
|
mitogen-activated protein kinase kinase 1 | 0.439 | 0.846 | 0.90 |
|
disease | 1.000 | definitive | 1.000 | 5 | 0 | 2006 | 2019 | ||||||||
|
porcupine O-acyltransferase | 0.545 | 0.692 | 1.00 |
|
disease | 1.000 | None | 0.968 | 5 | 0 | 1962 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 C | 0.510 | 0.846 | 1.00 |
|
disease | 1.000 | strong | 0.969 | 5 | 0 | 2004 | 2019 | ||||||||
|
EPM2A glucan phosphatase, laforin | 0.608 | 0.577 | 8.7E-06 |
|
disease | 1.000 | None | 0.965 | 5 | 0 | 1998 | 2020 |