| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
calcium voltage-gated channel auxiliary subunit alpha2delta 2 | 0.626 | 0.615 | 1.00 |
|
phenotype | 0.510 | strong | 1.000 | 1 | 0 | 2004 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.500 | None | 1.000 | 35 | 6 | 1997 | 2019 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
phenotype | 0.460 | None | 1.000 | 6 | 0 | 1999 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.450 | None | 1.000 | 5 | 0 | 1997 | 2019 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.430 | None | 1.000 | 3 | 0 | 2001 | 2015 | ||||||||
|
ATP binding cassette subfamily B member 7 | 0.678 | 0.385 | 1.00 |
|
phenotype | 0.430 | None | 1.000 | 3 | 0 | 2000 | 2016 | ||||||||
|
SRY-box transcription factor 2 | 0.405 | 0.808 | 0.71 |
|
phenotype | 0.320 | None | 1.000 | 2 | 0 | 2018 | 2018 | ||||||||
|
calcium voltage-gated channel auxiliary subunit beta 4 | 0.653 | 0.231 | 3.1E-02 |
|
phenotype | 0.320 | None | 1.000 | 2 | 0 | 2000 | 2014 | ||||||||
|
pumilio RNA binding family member 1 | 0.653 | 0.654 | 1.00 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2018 | 2020 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.200 | None | 1.000 | 22 | 1 | 2000 | 2018 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.200 | None | 1.000 | 12 | 0 | 1997 | 2010 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.200 | None | 0.909 | 10 | 3 | 2004 | 2016 | ||||||||
|
inositol 1,4,5-trisphosphate receptor type 1 | 0.534 | 0.846 | 1.00 |
|
phenotype | 0.190 | None | 1.000 | 9 | 0 | 2003 | 2018 | ||||||||
|
alpha tocopherol transfer protein | 0.612 | 0.577 | 1.4E-03 |
|
phenotype | 0.190 | None | 1.000 | 7 | 1 | 1997 | 2009 | ||||||||
|
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 | ||||||||
|
spectrin beta, non-erythrocytic 2 | 0.619 | 0.731 | 9.9E-05 |
|
phenotype | 0.170 | None | 1.000 | 7 | 1 | 2006 | 2018 | ||||||||
|
ATP synthase F0 subunit 6 | 0.541 | 0.731 |
|
phenotype | 0.170 | None | 0.875 | 7 | 0 | 2007 | 2019 | |||||||||
|
SIL1 nucleotide exchange factor | 0.584 | 0.731 | 1.2E-02 |
|
phenotype | 0.150 | None | 1.000 | 5 | 1 | 2012 | 2017 | ||||||||
|
polynucleotide kinase 3'-phosphatase | 0.553 | 0.692 | 3.7E-14 |
|
phenotype | 0.150 | None | 1.000 | 5 | 0 | 2017 | 2019 | ||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.150 | None | 1.000 | 5 | 1 | 2009 | 2019 |