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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
apolipoprotein C3 | 0.531 | 0.731 | 1.0E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
apolipoprotein C4 | 0.743 | 0.385 | 8.9E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2018 | ||||||||
|
APOC4-APOC2 readthrough (NMD candidate) | 0.821 | 0.308 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2018 | |||||||||
|
apolipoprotein E | 0.338 | 0.962 | 1.9E-03 |
|
phenotype | 0.100 | None | 1.000 | 2 | 4 | 2012 | 2019 | ||||||||
|
amyloid beta precursor protein | 0.422 | 0.846 | 4.7E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2012 | 2012 | ||||||||
|
aryl hydrocarbon receptor nuclear translocator | 0.575 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
arrestin beta 1 | 0.588 | 0.846 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2012 | 2012 | ||||||||
|
ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 | 0.722 | 0.192 | 8.3E-12 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2017 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2018 | ||||||||
|
BAG cochaperone 4 | 0.743 | 0.308 | 1.9E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
BCAR1 scaffold protein, Cas family member | 0.518 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
BCL3 transcription coactivator | 0.541 | 0.731 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
BLOC-1 related complex subunit 8 | 2.6E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||||
|
BORCS8-MEF2B readthrough | 0.780 | 0.154 | 4.0E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2012 | 2012 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
BUD13 homolog | 0.751 | 0.538 | 2.1E-06 |
|
phenotype | 0.100 | None | 1.000 | 2 | 4 | 2012 | 2019 | ||||||||
|
chromosome 1 open reading frame 141 | 0.691 | 0.385 | 3.2E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
chromosome 7 open reading frame 50 | 1.000 | 0.077 | 3.4E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2018 | ||||||||
|
calcium voltage-gated channel subunit alpha1 C | 0.510 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2012 | 2012 | ||||||||
|
calpain 5 | 0.663 | 0.615 | 2.5E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
caspase 9 | 0.458 | 0.808 | 7.4E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
CD36 molecule | 0.446 | 0.846 | 1.1E-60 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2012 | 2012 | ||||||||
|
CD4 molecule | 0.604 | 0.654 | 7.9E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
CD40 molecule | 0.396 | 0.846 | 0.85 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2012 | 2012 |