| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
collagen type IX alpha 2 chain | 0.572 | 0.769 | 1.0E-08 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
collagen type IX alpha 1 chain | 0.566 | 0.731 | 3.1E-19 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
phenotype | 0.300 | strong | 0 | 0 | |||||||||||
|
calcium activated nucleotidase 1 | 0.619 | 0.731 | 2.5E-06 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
carbohydrate sulfotransferase 14 | 0.638 | 0.654 | 0.45 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
cyclin dependent kinase inhibitor 1C | 0.456 | 0.846 | 0.82 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
EvC ciliary complex subunit 1 | 0.587 | 0.577 | 3.5E-25 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
exostosin glycosyltransferase 1 | 0.522 | 0.769 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
exostosin glycosyltransferase 2 | 0.576 | 0.654 | 1.3E-09 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
kinesin family member 22 | 0.552 | 0.654 | 9.2E-10 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
Indian hedgehog signaling molecule | 0.573 | 0.538 | 0.31 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
heparan sulfate proteoglycan 2 | 0.438 | 0.885 | 1.0E-19 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
SH3 and PX domains 2B | 0.631 | 0.577 | 4.2E-03 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
GLI family zinc finger 3 | 0.436 | 0.846 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
tectonic family member 3 | 0.566 | 0.615 | 4.2E-12 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
obscurin like cytoskeletal adaptor 1 | 0.686 | 0.308 | 1.0E-25 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
sulfatase 1 | 0.585 | 0.538 | 1.4E-03 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
filamin B | 0.458 | 0.923 | 6.1E-10 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
solute carrier family 35 member D1 | 0.736 | 0.385 | 3.6E-04 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
filamin A | 0.419 | 0.846 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
ciliogenesis associated kinase 1 | 0.545 | 0.808 | 1.3E-05 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
fibroblast growth factor receptor 1 | 0.362 | 0.885 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 |