| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
secretory blood group 1, pseudogene | 0.792 | 0.385 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
tet methylcytosine dioxygenase 2 | 0.458 | 0.808 | 4.3E-54 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
TNNI3 interacting kinase | 0.691 | 0.346 | 3.1E-48 |
|
phenotype | 0.100 | None | 1.000 | 3 | 3 | 2014 | 2019 | ||||||||
|
FPGT-TNNI3K readthrough | 0.890 | 0.154 | 3.2E-48 |
|
phenotype | 0.100 | None | 1.000 | 3 | 3 | 2014 | 2019 | ||||||||
|
dynein axonemal heavy chain 2 | 0.931 | 0.115 | 1.3E-44 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
myosin IH | 0.751 | 0.385 | 2.1E-25 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
SEC16 homolog B, endoplasmic reticulum export factor | 0.805 | 0.346 | 2.1E-25 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2019 | ||||||||
|
protocadherin related 15 | 0.601 | 0.577 | 8.0E-25 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
synaptonemal complex protein 2 like | 0.839 | 0.154 | 3.0E-23 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2018 | 2018 | ||||||||
|
xylulokinase | 0.821 | 0.154 | 1.4E-22 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
SLX4 structure-specific endonuclease subunit | 0.565 | 0.731 | 1.6E-22 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
dihydropyrimidine dehydrogenase | 0.493 | 0.846 | 3.4E-22 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2014 | 2019 | ||||||||
|
endothelin converting enzyme 2 | 0.751 | 0.423 | 1.2E-21 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2010 | 2019 | ||||||||
|
fatty acid amide hydrolase 2 | 0.821 | 0.115 | 1.9E-21 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
double zinc ribbon and ankyrin repeat domains 1 | 1.000 | 0.077 | 5.3E-21 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
activating signal cointegrator 1 complex subunit 3 | 0.861 | 0.231 | 1.2E-20 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2014 | 2019 | ||||||||
|
parathyroid hormone 2 receptor | 0.780 | 0.308 | 1.4E-20 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
sorting nexin 32 | 0.861 | 0.077 | 1.8E-18 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
TBC1 domain family member 5 | 0.839 | 0.154 | 4.6E-18 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
solute carrier family 14 member 2 | 0.606 | 0.692 | 1.1E-17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
tachykinin receptor 3 | 0.553 | 0.769 | 1.8E-17 |
|
phenotype | 0.100 | None | 1.000 | 3 | 3 | 2010 | 2019 | ||||||||
|
adaptor related protein complex 4 subunit mu 1 | 0.638 | 0.500 | 4.5E-17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
nitric oxide synthase trafficking | 0.805 | 0.346 | 3.2E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 |