| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
interferon induced with helicase C domain 1 | 0.471 | 0.808 | 7.0E-44 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
transient receptor potential cation channel subfamily M member 1 | 0.626 | 0.462 | 1.6E-42 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
eyes shut homolog | 0.631 | 0.538 | 3.7E-41 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
adhesion G protein-coupled receptor V1 | 0.572 | 0.731 | 3.2E-39 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
wolframin ER transmembrane glycoprotein | 0.528 | 0.846 | 1.6E-38 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
cyclic nucleotide gated channel subunit beta 1 | 0.628 | 0.538 | 1.8E-37 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
FA complementation group I | 0.543 | 0.731 | 8.9E-37 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
disease | 0.100 | None | 1.000 | 1 | 8 | 2016 | 2016 | ||||||||
|
ciliogenesis and planar polarity effector 1 | 0.575 | 0.692 | 5.9E-36 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
RecQ like helicase 4 | 0.496 | 0.808 | 3.3E-35 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
calcium voltage-gated channel auxiliary subunit alpha2delta 4 | 0.716 | 0.269 | 1.5E-34 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
alpha-2-macroglobulin like 1 | 0.590 | 0.692 | 1.6E-34 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
coiled-coil domain containing 141 | 0.666 | 0.538 | 1.6E-33 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
intraflagellar transport 172 | 0.582 | 0.654 | 3.3E-33 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
laminin subunit alpha 1 | 0.582 | 0.808 | 3.2E-32 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
tyrosinase | 0.473 | 0.808 | 5.0E-32 |
|
disease | 0.100 | None | 0 | 2 |