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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
disease | 0.100 | None | 0 | 0 | ||||||||||||
|
H19 imprinted maternally expressed transcript | 0.494 | 0.923 |
|
disease | 0.100 | None | 0 | 0 | ||||||||||||
|
hydatidiform mole associated and imprinted | 0.670 | 0.538 |
|
disease | 0.100 | None | 0 | 0 | ||||||||||||
|
sex determining region Y | 0.456 | 0.808 |
|
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 | 0 | |||||||||||
|
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 | |||||||||||
|
pericentrin | 0.564 | 0.808 | 4.0E-58 |
|
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 | |||||||||||
|
myosin heavy chain 8 | 0.682 | 0.385 | 2.0E-51 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 0.576 | 0.654 | 1.2E-47 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
dynein cytoplasmic 2 heavy chain 1 | 0.555 | 0.731 | 1.1E-44 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
nebulin | 0.608 | 0.692 | 4.6E-41 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
FA complementation group I | 0.543 | 0.731 | 8.9E-37 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
centromere protein F | 0.601 | 0.654 | 1.9E-36 |
|
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 | |||||||||||
|
alpha-2-macroglobulin like 1 | 0.590 | 0.692 | 1.6E-34 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
FIG4 phosphoinositide 5-phosphatase | 0.551 | 0.731 | 2.3E-34 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
myosin XVIIIB | 0.628 | 0.615 | 1.0E-31 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
RPGRIP1 like | 0.534 | 0.769 | 4.1E-31 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
RAS p21 protein activator 2 | 0.579 | 0.769 | 7.4E-31 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
FA complementation group D2 | 0.479 | 0.885 | 1.1E-30 |
|
disease | 0.100 | None | 0 | 0 |