| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
zinc finger protein 512 | 0.839 | 0.192 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
zinc finger CCCH-type containing 4 | 1.000 | 0.077 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2010 | 2014 | ||||||||
|
UHRF1 binding protein 1 | 0.769 | 0.269 | 4.5E-13 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
Tu translation elongation factor, mitochondrial | 0.678 | 0.615 | 4.2E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
translocase of outer mitochondrial membrane 40 | 0.590 | 0.538 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
transcription factor AP-2 beta | 0.570 | 0.769 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2010 | 2013 | ||||||||
|
TNNI3 interacting kinase | 0.691 | 0.346 | 3.1E-48 |
|
phenotype | 0.100 | None | 1.000 | 3 | 4 | 2010 | 2013 | ||||||||
|
TATA-box binding protein associated factor 11 | 0.11 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||||
|
synapsin II | 0.653 | 0.577 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2012 | |||||||||
|
sulfatase 1 | 0.585 | 0.538 | 1.4E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
stonin 1 | 0.729 | 0.308 | 1.5E-11 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
STON1-GTF2A1L readthrough | 0.682 | 0.385 | 1.5E-22 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
sterol regulatory element binding transcription factor 2 | 0.566 | 0.577 | 0.21 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
solute carrier family 39 member 8 | 0.584 | 0.769 | 0.67 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2010 | 2013 | ||||||||
|
SH2B adaptor protein 1 | 0.566 | 0.731 | 0.97 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2009 | 2009 | ||||||||
|
serine/threonine kinase 33 | 0.666 | 0.346 | 2.2E-06 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2009 | 2013 | ||||||||
|
SEC16 homolog B, endoplasmic reticulum export factor | 0.805 | 0.346 | 2.1E-25 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2009 | 2013 | ||||||||
|
RPS10-NUDT3 readthrough | 0.931 | 0.154 | 0.95 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2010 | 2013 | ||||||||
|
rhophilin associated tail protein 1 like | 0.617 | 0.692 | 2.7E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
rabaptin, RAB GTPase binding effector protein 2 | 0.682 | 0.654 | 1.1E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
R-spondin 3 | 0.653 | 0.423 | 8.9E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
protein kinase D1 | 0.531 | 0.846 | 6.6E-07 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2010 | 2013 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2014 | 2014 | ||||||||
|
potassium voltage-gated channel subfamily H member 5 | 0.821 | 0.077 | 2.0E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||||||
|
platelet derived growth factor C | 0.621 | 0.692 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 |