| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
lysine acetyltransferase 14 | 0.890 | 0.077 | 1.3E-09 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DENN domain containing 5A | 0.821 | 0.115 | 5.8E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
potassium channel tetramerization domain containing 3 | 0.931 | 0.115 | 0.10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chromosome 11 open reading frame 95 | 0.780 | 0.115 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
branched chain keto acid dehydrogenase kinase | 0.769 | 0.154 | 5.7E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
G1 to S phase transition 2 | 0.821 | 0.154 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
potassium voltage-gated channel subfamily C member 1 | 0.711 | 0.154 | 0.99 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2017 | 2019 | ||||||||
|
lipoyl(octanoyl) transferase 2 | 0.821 | 0.154 | 0.63 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
GUF1 homolog, GTPase | 0.805 | 0.154 | 5.3E-18 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ubiquitin specific peptidase 45 | 0.792 | 0.154 | 1.4E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BLOC-1 related complex subunit 5 | 0.805 | 0.192 | 1.2E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fucose kinase | 0.769 | 0.192 | 1.0E-29 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
kelch like family member 15 | 0.805 | 0.192 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peptidase, mitochondrial processing subunit beta | 0.769 | 0.192 | 4.5E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
major facilitator superfamily domain containing 8 | 0.682 | 0.231 | 2.5E-12 |
|
phenotype | 0.110 | None | 1.000 | 4 | 3 | 2009 | 2019 | ||||||||
|
CLN6 transmembrane ER protein | 0.670 | 0.231 | 1.0E-04 |
|
phenotype | 0.110 | None | 1.000 | 2 | 2 | 2002 | 2008 | ||||||||
|
ferric chelate reductase 1 like | 0.666 | 0.231 | 1.5E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
syntaxin 7 | 0.821 | 0.231 | 5.0E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
pyridoxal phosphate binding protein | 0.736 | 0.231 | 4.0E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BRCA1 associated ATM activator 1 | 0.695 | 0.231 | 7.4E-13 |
|
phenotype | 0.140 | None | 1.000 | 0 | 0 | 2016 | 2019 | ||||||||
|
ALG6 alpha-1,3-glucosyltransferase | 0.805 | 0.231 | 3.1E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
bolA family member 3 | 0.760 | 0.231 | 0.15 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
molybdenum cofactor synthesis 1 | 0.743 | 0.231 | 9.1E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cyclin dependent kinase 2 interacting protein | 0.821 | 0.231 | 5.7E-02 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2019 | 2019 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class H | 0.760 | 0.231 | 0.23 |
|
phenotype | 0.100 | None | 0 | 0 |