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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
calcium/calmodulin dependent protein kinase II alpha | 0.612 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2017 | 2017 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 46 | 3 | 1988 | 2017 | ||||||||
|
CDKN1A interacting zinc finger protein 1 | 0.617 | 0.500 | 6.3E-02 |
|
phenotype | 0.100 | None | 1.000 | 38 | 3 | 1983 | 2017 | ||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 27 | 3 | 1998 | 2016 | ||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 26 | 3 | 1995 | 2017 | ||||||||
|
glutamate ionotropic receptor NMDA type subunit 1 | 0.561 | 0.692 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 25 | 3 | 1983 | 2017 | ||||||||
|
dedicator of cytokinesis 3 | 0.619 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 23 | 3 | 2000 | 2018 | ||||||||
|
SATB homeobox 2 | 0.503 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 3 | 1989 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 20 | 3 | 1999 | 2016 | ||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 3 | 1963 | 2016 | ||||||||
|
cyclin dependent kinase like 5 | 0.522 | 0.692 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 18 | 3 | 2004 | 2016 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 3 | 1984 | 2015 | ||||||||
|
structural maintenance of chromosomes 1A | 0.509 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 3 | 1995 | 2017 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 3 | 1971 | 2018 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 15 | 3 | 1989 | 2017 | ||||||||
|
titin | 0.470 | 0.885 | 2.6E-96 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 1991 | 2014 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 2001 | 2015 | ||||||||
|
TTN antisense RNA 1 | 0.599 | 0.577 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 1991 | 2014 | |||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
phenotype | 0.100 | None | 1.000 | 12 | 3 | 1997 | 2017 | ||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 11 | 3 | 2001 | 2015 | ||||||||
|
neurite extension and migration factor | 0.659 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 11 | 3 | 2004 | 2017 | ||||||||
|
solute carrier family 6 member 8 | 0.476 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 11 | 3 | 2000 | 2017 | ||||||||
|
AP4B1 antisense RNA 1 | 0.805 | 0.231 |
|
phenotype | 0.100 | None | 1.000 | 10 | 3 | 2009 | 2016 | |||||||||
|
eukaryotic translation elongation factor 1 alpha 2 | 0.554 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 10 | 3 | 2009 | 2017 | ||||||||
|
ASXL transcriptional regulator 3 | 0.590 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 3 | 2011 | 2017 |