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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
filaggrin | 0.525 | 0.846 | 2.9E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2006 | 2006 | ||||||||
|
FGF1 intracellular binding protein | 0.674 | 0.538 | 4.4E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
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 | ||||||||
|
enhancer of zeste 2 polycomb repressive complex 2 subunit | 0.376 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 1998 | 2013 | ||||||||
|
embryonic ectoderm development | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
phenotype | 0.100 | None | 1.000 | 36 | 1 | 1989 | 2018 | ||||||||
|
dynein axonemal heavy chain 5 | 0.590 | 0.692 | 4.9E-64 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2002 | 2013 | ||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2017 | ||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 1 | 1989 | 2017 | ||||||||
|
cullin 4B | 0.556 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2000 | 2017 | ||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 22 | 1 | 1991 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 8 | 0.656 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 2008 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 2 | 0.585 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2007 | 2017 | ||||||||
|
cyclin D2 | 0.477 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 13 | 1 | 2004 | 2018 | ||||||||
|
bromodomain and PHD finger containing 1 | 0.686 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2017 | 2017 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2005 | 2013 | ||||||||
|
BDNF antisense RNA | 0.638 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2001 | 2018 | |||||||||
|
brain derived neurotrophic factor | 0.345 | 0.923 | 0.66 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2001 | 2018 | ||||||||
|
BAF chromatin remodeling complex subunit BCL11B | 0.568 | 0.731 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 2003 | 2016 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2007 | 2013 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 17 | 4 | 1999 | 2013 | ||||||||
|
arginine vasopressin receptor 2 | 0.568 | 0.769 | 0.56 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1999 | 2015 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1992 | 2017 | ||||||||
|
ASXL transcriptional regulator 2 | 0.617 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |