| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1,4-alpha-glucan branching enzyme 1 | 0.612 | 0.654 | 1.1E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
3-hydroxyacyl-CoA dehydratase 1 | 0.539 | 0.846 | 1.3E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
achaete-scute family bHLH transcription factor 1 | 0.552 | 0.692 | 0.68 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin alpha 1, skeletal muscle | 0.540 | 0.769 | 1.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin gamma 2, smooth muscle | 0.505 | 0.808 | 7.1E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
activating signal cointegrator 1 complex subunit 1 | 0.495 | 0.846 | 2.6E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ADAM metallopeptidase with thrombospondin type 1 motif 3 | 0.581 | 0.808 | 1.0E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
adhesion G protein-coupled receptor G6 | 0.666 | 0.385 | 6.6E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
agrin | 0.626 | 0.538 | 5.5E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
alanyl-tRNA synthetase 2, mitochondrial | 0.644 | 0.500 | 5.0E-17 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ALG12 alpha-1,6-mannosyltransferase | 0.705 | 0.500 | 1.2E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ALG8 alpha-1,3-glucosyltransferase | 0.659 | 0.577 | 1.2E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
alkaline phosphatase, biomineralization associated | 0.546 | 0.769 | 3.6E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
APC membrane recruitment protein 1 | 0.570 | 0.654 | 0.85 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aquaporin 2 | 0.581 | 0.769 | 2.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
arginine vasopressin receptor 2 | 0.568 | 0.769 | 0.56 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ARVCF delta catenin family member | 0.540 | 0.769 | 5.0E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily C member 8 | 0.474 | 0.846 | 8.0E-24 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2008 | 2008 | ||||||||
|
Bardet-Biedl syndrome 9 | 0.615 | 0.577 | 4.2E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
barttin CLCNK type accessory subunit beta | 0.603 | 0.692 | 1.1E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
beta 3-glucosyltransferase | 0.554 | 0.731 | 7.1E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BICD cargo adaptor 2 | 0.615 | 0.731 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 |