| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
partner and localizer of BRCA2 | 0.485 | 0.769 | 3.0E-19 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
euchromatic histone lysine methyltransferase 1 | 0.460 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
espin | 0.700 | 0.385 | 2.9E-09 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2006 | 2008 | ||||||||
|
adhesion G protein-coupled receptor V1 | 0.572 | 0.731 | 3.2E-39 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 7 | 1998 | 2019 | ||||||||
|
peroxisomal biogenesis factor 11 beta | 0.612 | 0.654 | 1.3E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
potassium voltage-gated channel subfamily Q member 4 | 0.674 | 0.462 | 0.47 |
|
phenotype | 0.170 | None | 1.000 | 0 | 1 | 1999 | 2017 | ||||||||
|
otoferlin | 0.691 | 0.385 | 5.4E-39 |
|
phenotype | 0.480 | strong | 1.000 | 0 | 15 | 1998 | 2017 | ||||||||
|
actin gamma 1 | 0.477 | 0.846 | 4.8E-03 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 1 | 1996 | 2009 | ||||||||
|
tectorin alpha | 0.700 | 0.385 | 3.0E-16 |
|
phenotype | 0.500 | strong | 1.000 | 0 | 4 | 1998 | 2018 | ||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ret proto-oncogene | 0.392 | 0.885 | 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 | ||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane serine protease 3 | 0.650 | 0.538 | 6.1E-11 |
|
phenotype | 0.460 | strong | 1.000 | 0 | 2 | 2003 | 2014 | ||||||||
|
SIX homeobox 1 | 0.496 | 0.692 | 0.65 |
|
phenotype | 0.420 | strong | 0.667 | 0 | 1 | 1998 | 2011 | ||||||||
|
protocadherin related 15 | 0.601 | 0.577 | 8.0E-25 |
|
phenotype | 0.630 | strong | 1.000 | 0 | 4 | 2003 | 2019 | ||||||||
|
SRY-box transcription factor 10 | 0.461 | 0.808 | 0.99 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2015 | 2015 | ||||||||
|
AMMECR nuclear protein 1 | 0.659 | 0.692 | 0.82 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
USH1 protein network component harmonin | 0.628 | 0.538 | 4.0E-18 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 1 | 1998 | 2019 | ||||||||
|
collagen type IV alpha 4 chain | 0.644 | 0.500 | 6.7E-16 |
|
phenotype | 0.110 | None | 1.000 | 0 | 2 | 2002 | 2002 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 1 | 1995 | 1997 | ||||||||
|
heparan-alpha-glucosaminide N-acetyltransferase | 0.628 | 0.577 | 6.3E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
MARVEL domain containing 2 | 0.705 | 0.462 | 1.3E-12 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 1 | 2008 | 2015 |