| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
tRNA | 0.534 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 10 | 0.584 | 0.654 | 5.4E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 12 | 0.601 | 0.615 | 9.5E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 13 | 0.597 | 0.654 | 5.9E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 14 | 0.592 | 0.692 | 0.23 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
paired like homeodomain 3 | 0.585 | 0.692 | 0.81 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
dolichyl-phosphate mannosyltransferase subunit 3, regulatory | 0.839 | 0.308 | 0.23 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphatidylinositol glycan anchor biosynthesis class V | 0.636 | 0.615 | 1.5E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 26 | 0.584 | 0.615 | 0.93 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
selenoprotein N | 0.575 | 0.692 | 9.8E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin alpha 1, skeletal muscle | 0.540 | 0.769 | 1.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
mitogen-activated protein kinase kinase kinase 20 | 0.564 | 0.769 | 8.4E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tRNA | 0.590 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tRNA | 0.555 | 0.808 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tRNA | 0.579 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tRNA | 0.563 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tripartite motif containing 37 | 0.610 | 0.654 | 9.7E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
muscle associated receptor tyrosine kinase | 0.570 | 0.769 | 4.2E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
myosin light chain 2 | 0.601 | 0.615 | 2.7E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NRAS proto-oncogene, GTPase | 0.390 | 0.808 | 0.49 |
|
phenotype | 0.100 | None | 0 | 0 |