Source: CLINVAR
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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
MTND2 | 0.601 | 0.615 |
|
disease | 0.400 | None | 1.000 | 0 | 2 | 2002 | 2005 | |||||||||
|
NADH dehydrogenase, subunit 4 (complex I) | 0.546 | 0.769 |
|
disease | 0.100 | None | 0 | 1 | ||||||||||||
|
FAD dependent oxidoreductase domain containing 1 | 0.633 | 0.462 | 2.0E-16 |
|
disease | 0.600 | strong | 1.000 | 1 | 3 | 1998 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase core subunit V1 | 0.617 | 0.538 | 6.4E-11 |
|
disease | 0.640 | None | 1.000 | 4 | 5 | 1999 | 2018 | ||||||||
|
NADH:ubiquinone oxidoreductase core subunit S1 | 0.595 | 0.692 | 6.6E-11 |
|
disease | 0.620 | None | 1.000 | 0 | 2 | 2001 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase complex assembly factor 5 | 0.674 | 0.462 | 3.1E-10 |
|
disease | 0.600 | strong | 1.000 | 1 | 1 | 2008 | 2019 | ||||||||
|
solute carrier family 25 member 10 | 0.666 | 0.500 | 5.9E-10 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
NADH:ubiquinone oxidoreductase complex assembly factor 2 | 0.641 | 0.577 | 2.1E-06 |
|
disease | 0.600 | None | 1.000 | 2 | 1 | 2005 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase subunit A13 | 0.556 | 0.692 | 3.8E-06 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
nucleotide binding protein like | 0.670 | 0.423 | 1.1E-05 |
|
disease | 0.610 | None | 1.000 | 1 | 2 | 2010 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase subunit B3 | 0.705 | 0.538 | 1.6E-05 |
|
disease | 0.600 | strong | 1.000 | 0 | 1 | 2012 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase subunit S4 | 0.587 | 0.808 | 3.1E-04 |
|
disease | 0.910 | None | 1.000 | 0 | 6 | 1998 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase core subunit S3 | 0.581 | 0.769 | 5.8E-04 |
|
disease | 0.600 | None | 1.000 | 0 | 2 | 2009 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase core subunit S2 | 0.601 | 0.654 | 1.4E-03 |
|
disease | 0.610 | None | 1.000 | 2 | 1 | 2004 | 2016 | ||||||||
|
NADH:ubiquinone oxidoreductase subunit B11 | 0.566 | 0.692 | 0.80 |
|
disease | 0.400 | None | 1.000 | 0 | 1 | 2016 | 2016 |