| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
methylmalonyl-CoA mutase | 0.534 | 0.731 | 1.7E-22 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
MYCN proto-oncogene, bHLH transcription factor | 0.454 | 0.808 | 0.89 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
notch receptor 1 | 0.369 | 0.885 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
transmembrane protein 216 | 0.544 | 0.615 | 1.9E-03 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
phosphodiesterase 6D | 0.623 | 0.577 | 6.4E-03 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
receptor interacting serine/threonine kinase 4 | 0.565 | 0.654 | 4.0E-03 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
delta like canonical Notch ligand 4 | 0.494 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
BCL6 corepressor | 0.471 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
WD repeat domain 35 | 0.525 | 0.692 | 1.0E-22 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
zinc finger SWIM-type containing 6 | 0.626 | 0.577 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
McKusick-Kaufman syndrome | 0.566 | 0.692 | 2.1E-09 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
N-alpha-acetyltransferase 10, NatA catalytic subunit | 0.535 | 0.692 | 0.76 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
OFD1 centriole and centriolar satellite protein | 0.510 | 0.808 | 0.96 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
dachsous cadherin-related 1 | 0.592 | 0.731 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 G | 0.590 | 0.577 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
CXXC repeat containing interactor of PDZ3 domain | 0.716 | 0.308 | 9.8E-04 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
phosphatidylserine synthase 1 | 0.610 | 0.615 | 0.15 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
KIAA0753 | 0.631 | 0.577 | 1.6E-28 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
FIG4 phosphoinositide 5-phosphatase | 0.551 | 0.731 | 2.3E-34 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
thioredoxin domain containing 15 | 0.736 | 0.615 | 9.6E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
partner and localizer of BRCA2 | 0.485 | 0.769 | 3.0E-19 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
BLM RecQ like helicase | 0.535 | 0.808 | 1.5E-15 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
TUB like protein 1 | 0.623 | 0.462 | 5.7E-04 |
|
disease | 0.100 | None | 0 | 1 |