| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
group | 0.400 | None | 0.989 | 177 | 0 | 1992 | 2020 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
group | 0.500 | None | 0.963 | 82 | 11 | 2000 | 2020 | ||||||||
|
hypertrichosis 2 (generalized, congenital) | 0.392 | 0.808 |
|
group | 0.100 | None | 1.000 | 60 | 0 | 2003 | 2019 | |||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
group | 0.200 | None | 1.000 | 40 | 1 | 2002 | 2019 | ||||||||
|
fragile site, folic acid type, rare, fra(X)(q28) E | 0.636 | 0.462 |
|
group | 0.100 | None | 0.974 | 39 | 0 | 1993 | 2014 | |||||||||
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) | 0.641 | 0.462 |
|
group | 0.100 | None | 0.879 | 33 | 0 | 1992 | 2009 | |||||||||
|
protocadherin 19 | 0.599 | 0.462 | 1.00 |
|
group | 0.200 | None | 0.964 | 28 | 1 | 2008 | 2019 | ||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
group | 0.200 | None | 1.000 | 26 | 0 | 1996 | 2019 | ||||||||
|
nuclear FMR1 interacting protein 2 | 0.641 | 0.577 | 1.00 |
|
group | 0.100 | None | 1.000 | 26 | 0 | 2001 | 2019 | ||||||||
|
paired box 6 | 0.450 | 0.769 | 1.00 |
|
group | 0.500 | None | 1.000 | 23 | 0 | 1989 | 2019 | ||||||||
|
polyglutamine binding protein 1 | 0.570 | 0.654 | 0.79 |
|
group | 0.500 | None | 1.000 | 18 | 2 | 1998 | 2019 | ||||||||
|
interleukin 1 receptor accessory protein like 1 | 0.617 | 0.692 | 1.00 |
|
group | 0.100 | None | 1.000 | 18 | 0 | 2000 | 2019 | ||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
group | 0.100 | None | 1.000 | 18 | 0 | 1997 | 2019 | ||||||||
|
AF4/FMR2 family member 2 | 0.636 | 0.538 | 1.00 |
|
group | 0.200 | None | 0.889 | 18 | 0 | 1996 | 2014 | ||||||||
|
oligophrenin 1 | 0.633 | 0.538 | 1.00 |
|
group | 0.200 | None | 0.941 | 17 | 0 | 1999 | 2018 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
group | 0.200 | None | 1.000 | 17 | 0 | 2012 | 2019 | ||||||||
|
SH3 and multiple ankyrin repeat domains 3 | 0.550 | 0.731 | 1.00 |
|
group | 0.500 | None | 1.000 | 17 | 0 | 2006 | 2019 | ||||||||
|
cereblon | 0.551 | 0.654 | 2.9E-04 |
|
group | 0.100 | None | 1.000 | 16 | 1 | 2004 | 2019 | ||||||||
|
lysine demethylase 5C | 0.581 | 0.538 | 1.00 |
|
group | 0.600 | None | 1.000 | 16 | 1 | 2006 | 2020 | ||||||||
|
discs large MAGUK scaffold protein 3 | 0.544 | 0.615 | 1.00 |
|
group | 0.200 | None | 0.867 | 15 | 1 | 1999 | 2018 | ||||||||
|
IQ motif and Sec7 domain ArfGEF 2 | 0.573 | 0.577 | 1.00 |
|
group | 0.200 | None | 1.000 | 15 | 0 | 2010 | 2019 | ||||||||
|
actin beta | 0.325 | 0.923 | 0.99 |
|
group | 0.200 | None | 1.000 | 15 | 0 | 1999 | 2019 | ||||||||
|
cyclin dependent kinase like 5 | 0.522 | 0.692 | 1.00 |
|
group | 0.200 | None | 1.000 | 15 | 1 | 2003 | 2019 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
group | 0.600 | None | 1.000 | 14 | 0 | 2003 | 2019 | ||||||||
|
p21 (RAC1) activated kinase 3 | 0.569 | 0.731 | 0.99 |
|
group | 0.200 | None | 1.000 | 14 | 3 | 1999 | 2020 |