| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
TOPBP1 interacting checkpoint and replication regulator | 0.769 | 0.423 | 7.2E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
rubicon autophagy regulator | 0.716 | 0.423 | 1.4E-13 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
N-glycanase 1 | 0.601 | 0.654 | 1.5E-13 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protocadherin beta 4 | 0.931 | 0.077 | 7.0E-12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
centrosomal protein 97 | 1.000 | 2.0E-11 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
trafficking protein particle complex 11 | 0.650 | 0.500 | 4.6E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
adhesion G protein-coupled receptor G1 | 0.590 | 0.654 | 5.3E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATP binding cassette subfamily C member 9 | 0.552 | 0.692 | 9.4E-09 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
3-hydroxyanthranilate 3,4-dioxygenase | 0.644 | 0.538 | 1.1E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.100 | None | 1.000 | 2 | 9 | 2014 | 2014 | ||||||||
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 0.656 | 0.423 | 1.6E-08 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
CLN5 intracellular trafficking protein | 0.705 | 0.269 | 1.7E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heparan-alpha-glucosaminide N-acetyltransferase | 0.628 | 0.577 | 6.3E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
La ribonucleoprotein 7, transcriptional regulator | 0.674 | 0.615 | 9.3E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
OTU deubiquitinase 6B | 0.659 | 0.538 | 1.3E-07 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
SEC24 homolog D, COPII coat complex component | 0.663 | 0.577 | 1.3E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transient receptor potential cation channel subfamily M member 3 | 0.663 | 0.769 | 5.7E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
syntaxin 7 | 0.821 | 0.231 | 5.0E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
centromere protein T | 0.821 | 0.231 | 5.8E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chromosome 12 open reading frame 4 | 0.691 | 0.308 | 1.1E-05 |
|
phenotype | 0.100 | None | 0 | 1 |