| 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 polymerase III subunit A | 0.538 | 0.769 | 1.3E-23 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heterogeneous nuclear ribonucleoprotein K | 0.539 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
phenotype | 0.470 | strong | 1.000 | 0 | 15 | 1989 | 2019 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 1 | 1995 | 1997 | ||||||||
|
dentin sialophosphoprotein | 0.556 | 0.769 | 1.1E-07 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 1997 | 1997 | ||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
adhesion G protein-coupled receptor V1 | 0.572 | 0.731 | 3.2E-39 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 7 | 1998 | 2019 | ||||||||
|
splicing factor 3b subunit 4 | 0.576 | 0.615 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.480 | strong | 1.000 | 0 | 4 | 1998 | 2019 | ||||||||
|
pyruvate dehydrogenase E1 subunit alpha 1 | 0.581 | 0.538 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.500 | strong | 1.000 | 0 | 8 | 1998 | 2019 | ||||||||
|
potassium voltage-gated channel subfamily E regulatory subunit 1 | 0.588 | 0.615 | 3.4E-03 |
|
phenotype | 0.110 | None | 1.000 | 0 | 3 | 2017 | 2017 | ||||||||
|
pleckstrin homology domain interacting protein | 0.595 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
pogo transposable element derived with ZNF domain | 0.599 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protocadherin related 15 | 0.601 | 0.577 | 8.0E-25 |
|
phenotype | 0.630 | strong | 1.000 | 0 | 4 | 2003 | 2019 | ||||||||
|
peroxisomal biogenesis factor 11 beta | 0.612 | 0.654 | 1.3E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
gap junction protein beta 3 | 0.621 | 0.462 | 2.2E-03 |
|
phenotype | 0.500 | strong | 1.000 | 0 | 1 | 1998 | 2017 | ||||||||
|
USH1 protein network component harmonin | 0.628 | 0.538 | 4.0E-18 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 1 | 1998 | 2019 | ||||||||
|
heparan-alpha-glucosaminide N-acetyltransferase | 0.628 | 0.577 | 6.3E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 4 | 5 | 1992 | 2014 | ||||||||
|
POU class 3 homeobox 4 | 0.633 | 0.654 | 0.57 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 3 | 1995 | 2009 | ||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
phenotype | 0.100 | None | 0 | 1 |