| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
succinate-CoA ligase ADP-forming subunit beta | 0.566 | 0.654 | 2.3E-03 |
|
phenotype | 0.420 | None | 1.000 | 0 | 0 | 2007 | 2009 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.420 | None | 0.500 | 0 | 0 | 2012 | 2015 | ||||||||
|
DDB1 and CUL4 associated factor 17 | 0.653 | 0.577 | 3.7E-07 |
|
phenotype | 0.410 | None | 0.500 | 0 | 0 | 2010 | 2016 | ||||||||
|
solute carrier family 19 member 3 | 0.610 | 0.692 | 0.10 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
metabolism of cobalamin associated D | 0.751 | 0.385 | 2.1E-05 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
FAD dependent oxidoreductase domain containing 1 | 0.633 | 0.462 | 2.0E-16 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
mitochondrial inner membrane protein MPV17 | 0.595 | 0.577 | 9.7E-11 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
glutamyl-tRNA synthetase 2, mitochondrial | 0.666 | 0.538 | 1.1E-08 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
GTP binding protein 2 | 0.736 | 0.423 | 0.32 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
major histocompatibility complex, class I-related | 0.716 | 0.346 | 4.9E-18 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
solute carrier family 46 member 1 | 0.606 | 0.731 | 2.2E-02 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
sulfite oxidase | 0.638 | 0.615 | 9.4E-07 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
FAST kinase domains 2 | 0.659 | 0.731 | 2.9E-06 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.700 | None | 0.982 | 1 | 0 | 1991 | 2019 | ||||||||
|
THAP domain containing 1 | 0.644 | 0.462 | 0.80 |
|
phenotype | 0.600 | None | 0.964 | 1 | 0 | 1999 | 2019 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 2001 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.480 | None | 1.000 | 1 | 0 | 1999 | 2020 | ||||||||
|
adenylate cyclase 5 | 0.617 | 0.577 | 1.00 |
|
phenotype | 0.470 | None | 1.000 | 1 | 0 | 2014 | 2017 | ||||||||
|
fatty acid 2-hydroxylase | 0.573 | 0.654 | 0.15 |
|
phenotype | 0.430 | None | 1.000 | 1 | 0 | 2008 | 2019 | ||||||||
|
PTEN induced kinase 1 | 0.516 | 0.769 | 1.9E-10 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 2004 | 2015 | ||||||||
|
chromosome 19 open reading frame 12 | 0.641 | 0.615 | 0.34 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2013 | 2017 |