| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
frataxin | 0.510 | 0.654 | 0.34 |
|
phenotype | 0.100 | None | 0.977 | 44 | 1 | 1996 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.500 | None | 1.000 | 35 | 6 | 1997 | 2019 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
phenotype | 0.100 | None | 1.000 | 22 | 0 | 2002 | 2019 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.200 | None | 1.000 | 22 | 1 | 2000 | 2018 | ||||||||
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.100 | None | 0.957 | 22 | 0 | 1997 | 2019 | ||||||||
|
ataxin 1 | 0.534 | 0.769 | 0.97 |
|
phenotype | 0.100 | None | 0.952 | 21 | 0 | 1992 | 2019 | ||||||||
|
ataxin 3 | 0.521 | 0.808 | 0.11 |
|
phenotype | 0.200 | None | 0.905 | 21 | 0 | 1995 | 2019 | ||||||||
|
senataxin | 0.570 | 0.731 | 0.95 |
|
phenotype | 0.200 | None | 0.941 | 17 | 2 | 2005 | 2018 | ||||||||
|
lymphocyte antigen 6 family member E | 0.563 | 0.808 | 0.32 |
|
phenotype | 0.100 | None | 0.933 | 15 | 0 | 1997 | 2019 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.200 | None | 1.000 | 14 | 0 | 1998 | 2020 | ||||||||
|
prion protein | 0.445 | 0.923 | 6.3E-04 |
|
phenotype | 0.200 | None | 1.000 | 14 | 4 | 1991 | 2017 | ||||||||
|
ATXN8 opposite strand lncRNA | 0.650 | 0.423 |
|
phenotype | 0.100 | None | 1.000 | 13 | 0 | 1997 | 2019 | |||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.200 | None | 1.000 | 12 | 0 | 1997 | 2010 | ||||||||
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
phenotype | 0.100 | None | 1.000 | 11 | 0 | 2007 | 2019 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.200 | None | 0.909 | 10 | 3 | 2004 | 2016 | ||||||||
|
sacsin molecular chaperone | 0.606 | 0.654 | 1.1E-23 |
|
phenotype | 0.100 | None | 1.000 | 9 | 0 | 2003 | 2020 | ||||||||
|
ataxin 7 | 0.581 | 0.654 | 0.96 |
|
phenotype | 0.090 | None | 1.000 | 9 | 0 | 1998 | 2011 | ||||||||
|
inositol 1,4,5-trisphosphate receptor type 1 | 0.534 | 0.846 | 1.00 |
|
phenotype | 0.190 | None | 1.000 | 9 | 0 | 2003 | 2018 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 3 | 0.544 | 0.615 | 1.00 |
|
phenotype | 0.180 | None | 1.000 | 8 | 2 | 2012 | 2018 | ||||||||
|
TATA-box binding protein | 0.552 | 0.846 | 1.5E-02 |
|
phenotype | 0.180 | None | 1.000 | 8 | 0 | 1999 | 2017 | ||||||||
|
alpha fetoprotein | 0.429 | 0.885 | 1.1E-11 |
|
phenotype | 0.080 | None | 1.000 | 8 | 0 | 1989 | 2018 | ||||||||
|
secretion associated Ras related GTPase 1A | 0.743 | 0.538 | 0.37 |
|
phenotype | 0.070 | None | 1.000 | 7 | 0 | 2012 | 2020 | ||||||||
|
alpha tocopherol transfer protein | 0.612 | 0.577 | 1.4E-03 |
|
phenotype | 0.190 | None | 1.000 | 7 | 1 | 1997 | 2009 | ||||||||
|
spectrin beta, non-erythrocytic 2 | 0.619 | 0.731 | 9.9E-05 |
|
phenotype | 0.170 | None | 1.000 | 7 | 1 | 2006 | 2018 | ||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.070 | None | 1.000 | 7 | 0 | 2009 | 2019 |