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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
glucosylceramidase beta 2 | 0.636 | 0.654 | 2.0E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
FA complementation group M | 0.543 | 0.731 | 2.4E-15 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
KIAA1549 | 0.615 | 0.346 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
WD repeat domain 48 | 0.628 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
WD repeat domain 35 | 0.525 | 0.692 | 1.0E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | 0.705 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
alanyl-tRNA synthetase 2, mitochondrial | 0.644 | 0.500 | 5.0E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
kinase D interacting substrate 220 | 0.534 | 0.769 | 7.4E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
solute carrier family 7 member 14 | 0.695 | 0.308 | 2.2E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ectopic P-granules autophagy protein 5 homolog | 0.623 | 0.769 | 1.4E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RAD21 cohesin complex component | 0.528 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 5 | 0.561 | 0.731 | 5.6E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 2 | 0.582 | 0.654 | 2.6E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 19 | 0.585 | 0.731 | 3.2E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
purine rich element binding protein A | 0.644 | 0.500 | 0.94 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
WD repeat domain 19 | 0.554 | 0.769 | 4.6E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
RP2 activator of ARL3 GTPase | 0.670 | 0.346 | 0.96 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
SON DNA binding protein | 0.565 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 |