| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
G protein subunit alpha q | 0.516 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glypican 3 | 0.466 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ASXL transcriptional regulator 2 | 0.617 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
FGF1 intracellular binding protein | 0.674 | 0.538 | 4.4E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
embryonic ectoderm development | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1967 | 2017 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 1 | 1971 | 2018 | ||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 29 | 1 | 1980 | 2017 | ||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 26 | 1 | 1985 | 2017 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 29 | 2 | 1986 | 2016 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 1986 | 2011 | ||||||||
|
lysine methyltransferase 2D | 0.465 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 25 | 1 | 1988 | 2017 | ||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
phenotype | 0.100 | None | 1.000 | 36 | 1 | 1989 | 2018 | ||||||||
|
lysine methyltransferase 2A | 0.410 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 22 | 1 | 1989 | 2017 | ||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 1 | 1989 | 2017 | ||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 22 | 1 | 1991 | 2017 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1991 | 2016 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1992 | 2017 | ||||||||
|
alsin Rho guanine nucleotide exchange factor ALS2 | 0.647 | 0.423 | 8.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 1992 | 2017 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1993 | 2016 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 17 | 2 | 1993 | 2015 | ||||||||
|
GNAS complex locus | 0.420 | 0.885 | 0.68 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 1993 | 2017 | ||||||||
|
aldehyde dehydrogenase 5 family member A1 | 0.619 | 0.462 | 3.1E-07 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1994 | 2016 | ||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
phenotype | 0.100 | None | 1.000 | 40 | 2 | 1995 | 2016 |