| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
interferon induced with helicase C domain 1 | 0.471 | 0.808 | 7.0E-44 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
fucose kinase | 0.769 | 0.192 | 1.0E-29 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
glycine decarboxylase | 0.628 | 0.577 | 6.6E-28 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
KIAA1109 | 0.603 | 0.654 | 3.3E-21 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 1991 | 1991 | ||||||||
|
zinc finger protein 142 | 0.861 | 0.192 | 4.8E-16 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
farnesyl-diphosphate farnesyltransferase 1 | 0.621 | 0.615 | 4.1E-15 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 0.547 | 0.769 | 6.5E-13 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
alpha-N-acetylgalactosaminidase | 0.647 | 0.538 | 1.8E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class B | 0.839 | 0.038 | 3.9E-11 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
methylenetetrahydrofolate reductase | 0.337 | 0.885 | 3.2E-10 |
|
phenotype | 0.440 | strong | 1.000 | 1 | 0 | 1998 | 2020 | ||||||||
|
hexosaminidase subunit beta | 0.644 | 0.654 | 3.5E-10 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1995 | 1995 | ||||||||
|
galactosidase beta 1 | 0.448 | 0.808 | 7.9E-10 |
|
phenotype | 0.310 | strong | 0.500 | 1 | 0 | 2003 | 2004 | ||||||||
|
Ts translation elongation factor, mitochondrial | 0.736 | 0.423 | 1.9E-09 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
prolyl 4-hydroxylase, transmembrane | 0.666 | 0.500 | 3.9E-09 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 2014 | 2019 | ||||||||
|
lysyl-tRNA synthetase 1 | 0.636 | 0.577 | 4.2E-09 |
|
phenotype | 0.300 | strong | 1.000 | 2 | 0 | 2015 | 2017 | ||||||||
|
F-box and leucine rich repeat protein 4 | 0.695 | 0.423 | 1.1E-08 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2016 | 2017 | ||||||||
|
UDP-glucose pyrophosphorylase 2 | 0.711 | 0.308 | 1.4E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2020 | 2020 | ||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1993 | 1993 | ||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
asparaginyl-tRNA synthetase 2, mitochondrial | 0.650 | 0.577 | 7.1E-08 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 2015 | 2018 | ||||||||
|
tubulin folding cofactor D | 0.599 | 0.615 | 1.0E-07 |
|
phenotype | 0.610 | strong | 1.000 | 1 | 0 | 2016 | 2019 |