| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
stonin 1 | 8.9E-12 |
|
phenotype | 0.100 | 1 | 1 | 2013 | 2013 | ||||||||||||
|
leucine rich repeats and guanylate kinase domain containing | 5.1E-15 |
|
phenotype | 0.100 | 1 | 1 | 2013 | 2013 | ||||||||||||
|
zinc finger protein 512 | 1.000 | 0.034 | 0.98 |
|
phenotype | 0.100 | 1 | 1 | 2012 | 2012 | ||||||||||
|
mitochondrial carrier 2 | 0.928 | 0.069 | 1.8E-02 |
|
phenotype | 0.100 | 3 | 3 | 2009 | 2017 | ||||||||||
|
FPGT-TNNI3K readthrough | 0.928 | 0.069 | 2.6E-47 |
|
phenotype | 0.100 | 3 | 4 | 2010 | 2017 | ||||||||||
|
RPS10-NUDT3 readthrough | 1.000 | 0.069 | 0.91 |
|
phenotype | 0.100 | 2 | 1 | 2010 | 2013 | ||||||||||
|
potassium voltage-gated channel subfamily H member 5 | 0.857 | 0.069 | 1.6E-02 |
|
phenotype | 0.100 | 1 | 1 | 2013 | 2013 | ||||||||||
|
long intergenic non-protein coding RNA 1122 | 1.000 | 0.069 |
|
phenotype | 0.100 | 1 | 1 | 2013 | 2017 | |||||||||||
|
CRYZL2P-SEC16B readthrough | 1.000 | 0.069 |
|
phenotype | 0.100 | 1 | 2 | 2009 | 2009 | |||||||||||
|
lamin tail domain containing 1 | 1.000 | 0.069 |
|
phenotype | 0.100 | 0 | 1 | |||||||||||||
|
mitochondrial translational initiation factor 3 | 0.928 | 0.103 | 4.2E-07 |
|
phenotype | 0.100 | 2 | 1 | 2010 | 2017 | ||||||||||
|
cordon-bleu WH2 repeat protein like 1 | 0.928 | 0.103 | 5.3E-02 |
|
phenotype | 0.100 | 1 | 1 | 2012 | 2015 | ||||||||||
|
ankyrin repeat and sterile alpha motif domain containing 1A | 0.834 | 0.103 | 0.68 |
|
phenotype | 0.100 | 1 | 1 | 2012 | 2015 | ||||||||||
|
coiled-coil domain containing 92 | 0.886 | 0.103 | 0.18 |
|
phenotype | 0.100 | 1 | 1 | 2012 | 2015 | ||||||||||
|
chromosome 2 open reading frame 88 | 0.886 | 0.103 | 2.8E-03 |
|
phenotype | 0.100 | 1 | 1 | 2012 | 2012 | ||||||||||
|
collagen type VI alpha 5 chain | 0.857 | 0.138 | 2.4E-45 |
|
phenotype | 0.100 | 1 | 1 | 2013 | 2013 | ||||||||||
|
TNNI3 interacting kinase | 0.743 | 0.172 | 2.5E-47 |
|
phenotype | 0.100 | 3 | 4 | 2010 | 2017 | ||||||||||
|
nudix hydrolase 3 | 0.886 | 0.172 | 0.44 |
|
phenotype | 0.100 | 2 | 1 | 2010 | 2013 | ||||||||||
|
family with sequence similarity 13 member A | 0.701 | 0.172 | 1.0E-17 |
|
phenotype | 0.100 | 1 | 1 | 2012 | 2015 | ||||||||||
|
MACRO domain containing 1 | 0.762 | 0.172 | 0.57 |
|
phenotype | 0.100 | 1 | 1 | 2012 | 2015 | ||||||||||
|
UHRF1 binding protein 1 | 0.815 | 0.172 | 6.4E-13 |
|
phenotype | 0.100 | 1 | 1 | 2012 | 2017 | ||||||||||
|
oxysterol binding protein like 11 | 0.857 | 0.172 | 0.94 |
|
phenotype | 0.100 | 1 | 1 | 2013 | 2013 | ||||||||||
|
STON1-GTF2A1L readthrough | 0.834 | 0.172 | 4.6E-23 |
|
phenotype | 0.100 | 1 | 1 | 2013 | 2017 | ||||||||||
|
glutaminyl-peptide cyclotransferase like | 0.886 | 0.207 | 1.6E-08 |
|
phenotype | 0.100 | 2 | 1 | 2010 | 2017 | ||||||||||
|
serine/threonine kinase 33 | 0.815 | 0.207 | 1.2E-05 |
|
phenotype | 0.100 | 2 | 1 | 2010 | 2013 |