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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
biogenesis of lysosomal organelles complex 1 subunit 6 | 0.769 | 0.308 | 8.0E-09 |
|
phenotype | 0.200 | None | 1.000 | 12 | 0 | 1971 | 2015 | ||||||||
|
biogenesis of lysosomal organelles complex 1 subunit 6 | 0.769 | 0.308 | 8.0E-09 |
|
disease | 0.220 | None | 1.000 | 12 | 0 | 1971 | 2017 | ||||||||
|
biogenesis of lysosomal organelles complex 1 subunit 6 | 0.769 | 0.308 | 8.0E-09 |
|
disease | 0.810 | None | 1.000 | 12 | 0 | 1971 | 2018 | ||||||||
|
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | 0.636 | 0.692 | 1.3E-07 |
|
disease | 0.210 | None | 1.000 | 12 | 0 | 1978 | 2008 | ||||||||
|
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | 0.636 | 0.692 | 1.3E-07 |
|
disease | 0.940 | definitive | 1.000 | 12 | 0 | 1978 | 2018 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
disease | 1.000 | None | 0.967 | 12 | 0 | 2003 | 2020 | ||||||||
|
phosphate regulating endopeptidase homolog X-linked | 0.548 | 0.808 | 1.00 |
|
disease | 1.000 | strong | 0.976 | 12 | 0 | 1987 | 2020 | ||||||||
|
phosphate regulating endopeptidase homolog X-linked | 0.548 | 0.808 | 1.00 |
|
disease | 0.500 | None | 1.000 | 12 | 0 | 1988 | 2018 | ||||||||
|
phosphate regulating endopeptidase homolog X-linked | 0.548 | 0.808 | 1.00 |
|
disease | 0.600 | None | 1.000 | 12 | 0 | 1988 | 2020 | ||||||||
|
polycystin 1, transient receptor potential channel interacting | 0.493 | 0.769 | 1.00 |
|
disease | 0.900 | definitive | 0.979 | 12 | 0 | 1988 | 2020 | ||||||||
|
polycystin 1, transient receptor potential channel interacting | 0.493 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 12 | 0 | 1992 | 2018 | ||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 12 | 0 | 1953 | 2019 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
group | 0.500 | definitive | 1.000 | 12 | 0 | 1966 | 2011 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
disease | 0.860 | None | 0.960 | 12 | 0 | 1966 | 2016 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
disease | 0.200 | None | 1.000 | 12 | 0 | 1966 | 2008 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
disease | 0.200 | None | 1.000 | 12 | 0 | 1966 | 2008 | ||||||||
|
thyroid hormone receptor beta | 0.554 | 0.769 | 1.00 |
|
disease | 0.900 | strong | 0.973 | 12 | 0 | 1990 | 2019 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 1.000 | definitive | 0.985 | 11 | 0 | 1991 | 2020 | ||||||||
|
homeostatic iron regulator | 0.436 | 0.846 | 2.6E-08 |
|
group | 0.300 | None | 1.000 | 11 | 0 | 1999 | 2014 | ||||||||
|
homeostatic iron regulator | 0.436 | 0.846 | 2.6E-08 |
|
disease | 0.700 | None | 0.975 | 11 | 0 | 1991 | 2020 | ||||||||
|
homeostatic iron regulator | 0.436 | 0.846 | 2.6E-08 |
|
disease | 0.900 | None | 0.979 | 11 | 0 | 1987 | 2019 | ||||||||
|
nitric oxide synthase 1 | 0.408 | 0.885 | 1.00 |
|
disease | 0.240 | None | 1.000 | 11 | 0 | 1993 | 2011 | ||||||||
|
solute carrier family 6 member 3 | 0.453 | 0.885 | 1.00 |
|
disease | 0.540 | None | 1.000 | 11 | 0 | 1995 | 2017 | ||||||||
|
complement C3 | 0.445 | 0.885 | 0.90 |
|
disease | 0.630 | strong | 1.000 | 11 | 0 | 1972 | 2013 | ||||||||
|
tyrosinase | 0.473 | 0.808 | 5.0E-32 |
|
disease | 0.200 | None | 1.000 | 11 | 0 | 1981 | 2011 |