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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.120 | None | 1.000 | 1 | 9 | 2012 | 2019 | ||||||||
|
iron-sulfur cluster assembly 1 | 0.792 | 0.231 | 0.17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
lysine acetyltransferase 6B | 0.525 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2009 | 2009 | ||||||||
|
GUF1 homolog, GTPase | 0.805 | 0.154 | 5.3E-18 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
CAP-Gly domain containing linker protein 1 | 0.617 | 0.654 | 0.68 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
seryl-tRNA synthetase 1 | 0.558 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ataxin 1 | 0.534 | 0.769 | 0.97 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
chromosome 12 open reading frame 4 | 0.691 | 0.308 | 1.1E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2000 | 2000 | ||||||||
|
ataxin 7 | 0.581 | 0.654 | 0.96 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATXN8 opposite strand lncRNA | 0.650 | 0.423 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
sodium voltage-gated channel beta subunit 1 | 0.575 | 0.538 | 0.10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sodium voltage-gated channel alpha subunit 2 | 0.518 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sodium voltage-gated channel alpha subunit 3 | 0.617 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
replication factor C subunit 2 | 0.520 | 0.769 | 2.2E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2020 | 2020 | ||||||||
|
RAB27A, member RAS oncogene family | 0.585 | 0.692 | 3.0E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sorting nexin 14 | 0.659 | 0.423 | 6.1E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
SCY1 like pseudokinase 1 | 0.582 | 0.769 | 2.5E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
parathyroid hormone 2 receptor | 0.780 | 0.308 | 1.4E-20 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
alanyl-tRNA synthetase 2, mitochondrial | 0.644 | 0.500 | 5.0E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tRNA methyltransferase 5 | 0.769 | 0.231 | 5.0E-02 |
|
phenotype | 0.100 | None | 0 | 0 |