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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
hypertrichosis 2 (generalized, congenital) | 0.392 | 0.808 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | |||||||||
|
NADH dehydrogenase, subunit 1 (complex I) | 0.522 | 0.769 |
|
disease | 0.100 | None | 0 | 0 | ||||||||||||
|
MTND2 | 0.601 | 0.615 |
|
disease | 0.100 | None | 0 | 0 | ||||||||||||
|
NADH dehydrogenase, subunit 3 (complex I) | 0.604 | 0.654 |
|
disease | 0.100 | None | 0 | 0 | ||||||||||||
|
RNA component of mitochondrial RNA processing endoribonuclease | 0.519 | 0.731 |
|
disease | 0.100 | None | 0 | 0 | ||||||||||||
|
Wolf-Hirschhorn syndrome chromosome region | 0.638 | 0.577 |
|
disease | 0.100 | None | 0 | 0 | ||||||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
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 | 0 | |||||||||||
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
multiple C2 and transmembrane domain containing 2 | 0.623 | 0.577 | 6.0E-52 |
|
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 | 1 | |||||||||||
|
transient receptor potential cation channel subfamily M member 1 | 0.626 | 0.462 | 1.6E-42 |
|
disease | 0.110 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
nebulin | 0.608 | 0.692 | 4.6E-41 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
multiple PDZ domain crumbs cell polarity complex component | 0.638 | 0.500 | 5.8E-38 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
FA complementation group I | 0.543 | 0.731 | 8.9E-37 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
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 | |||||||||||
|
EvC ciliary complex subunit 2 | 0.585 | 0.692 | 1.0E-34 |
|
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 | |||||||||||
|
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 |