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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
lysine methyltransferase 2E | 0.682 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nectin cell adhesion molecule 1 | 0.523 | 0.808 | 6.1E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
pyrroline-5-carboxylate reductase 1 | 0.570 | 0.654 | 2.0E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aldehyde dehydrogenase 18 family member A1 | 0.551 | 0.769 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
lysine methyltransferase 2C | 0.558 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
double PHD fingers 2 | 0.604 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
replication factor C subunit 1 | 0.541 | 0.808 | 0.97 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RAR related orphan receptor A | 0.533 | 0.808 | 0.40 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RAR related orphan receptor B | 0.644 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinitis pigmentosa GTPase regulator | 0.536 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protocadherin 19 | 0.599 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
component of oligomeric golgi complex 6 | 0.644 | 0.577 | 6.4E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
neuroligin 4 X-linked | 0.686 | 0.423 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
zinc finger C4H2-type containing | 0.561 | 0.731 | 0.91 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
prion protein | 0.445 | 0.923 | 6.3E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
proline dehydrogenase 1 | 0.612 | 0.692 | 5.4E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
inositol polyphosphate-5-phosphatase E | 0.561 | 0.615 | 3.1E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cilia and flagella associated protein 298 | 0.678 | 0.500 | 1.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
formin 2 | 0.610 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
kinetochore scaffold 1 | 0.644 | 0.615 | 0.78 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
chromosome 12 open reading frame 4 | 0.691 | 0.308 | 1.1E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
nucleoporin 107 | 0.595 | 0.500 | 2.6E-09 |
|
phenotype | 0.100 | None | 0 | 0 |