| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
FAD dependent oxidoreductase domain containing 1 | 0.633 | 0.462 | 2.0E-16 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
guanidinoacetate N-methyltransferase | 0.691 | 0.269 | 9.5E-03 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
phenotype | 0.430 | None | 1.000 | 2 | 0 | 1995 | 2015 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.700 | None | 0.982 | 1 | 0 | 1991 | 2019 | ||||||||
|
GTP binding protein 2 | 0.736 | 0.423 | 0.32 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
hypoxanthine phosphoribosyltransferase 1 | 0.500 | 0.808 | 0.94 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
L-2-hydroxyglutarate dehydrogenase | 0.653 | 0.462 | 4.2E-05 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
methionine adenosyltransferase 1A | 0.582 | 0.577 | 8.1E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
metabolism of cobalamin associated D | 0.751 | 0.385 | 2.1E-05 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
mitochondrial inner membrane protein MPV17 | 0.595 | 0.577 | 9.7E-11 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
major histocompatibility complex, class I-related | 0.716 | 0.346 | 4.9E-18 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
myogenesis regulating glycosidase (putative) | 0.805 | 0.269 | 1.1E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
NPC intracellular cholesterol transporter 2 | 0.612 | 0.769 | 1.8E-03 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 2001 | 2019 | ||||||||
|
platelet derived growth factor receptor beta | 0.416 | 0.846 | 0.90 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2014 | 2015 | ||||||||
|
pyruvate dehydrogenase complex component X | 0.595 | 0.692 | 9.7E-05 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
PTEN induced kinase 1 | 0.516 | 0.769 | 1.9E-10 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 2004 | 2015 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
polyribonucleotide nucleotidyltransferase 1 | 0.653 | 0.462 | 4.0E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
parkin RBR E3 ubiquitin protein ligase | 0.431 | 0.846 | 6.9E-07 |
|
phenotype | 0.490 | strong | 1.000 | 2 | 0 | 1998 | 2020 | ||||||||
|
protein activator of interferon induced protein kinase EIF2AK2 | 0.579 | 0.615 | 0.42 |
|
phenotype | 0.600 | None | 1.000 | 3 | 0 | 2008 | 2018 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.410 | None | 1.000 | 2 | 0 | 2012 | 2017 |