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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RAP1B, member of RAS oncogene family | 0.565 | 0.769 | 0.91 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
REV3 like, DNA directed polymerase zeta catalytic subunit | 0.588 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
retinoic acid receptor beta | 0.478 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 2007 | 2016 | ||||||||
|
peroxisomal biogenesis factor 5 | 0.561 | 0.731 | 5.6E-05 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1984 | 2017 | ||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 2001 | 2015 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1996 | 2016 | ||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 1998 | 2016 | ||||||||
|
selenoprotein N | 0.575 | 0.692 | 9.8E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
THO complex 2 | 0.650 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
proteasome 26S subunit, non-ATPase 12 | 0.578 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Rho GTPase activating protein 31 | 0.581 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
protocadherin 19 | 0.599 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 2008 | 2017 | ||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
peroxisomal biogenesis factor 2 | 0.582 | 0.654 | 2.6E-04 |
|
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 | |||||||||||
|
peroxisomal biogenesis factor 19 | 0.585 | 0.731 | 3.2E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
actin alpha 1, skeletal muscle | 0.540 | 0.769 | 1.1E-06 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 2001 | 2015 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
periaxin | 0.650 | 0.577 | 2.1E-14 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 1.000 | 0 | 0 | 2009 | 2017 | ||||||||
|
nucleoporin 107 | 0.595 | 0.500 | 2.6E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
Ras like without CAAX 1 | 0.527 | 0.808 | 0.13 |
|
phenotype | 0.100 | None | 0 | 0 |