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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
hypertrichosis 2 (generalized, congenital) | 0.392 | 0.808 |
|
group | 0.100 | None | 1.000 | 60 | 0 | 2003 | 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 | |||||||||
|
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome | 0.716 | 0.538 |
|
group | 0.100 | None | 1.000 | 10 | 0 | 1989 | 2011 | |||||||||
|
FMR1 intronic transcript 1 | 0.716 | 0.385 |
|
group | 0.090 | None | 1.000 | 9 | 0 | 1992 | 2008 | |||||||||
|
microRNA 137 | 0.513 | 0.846 |
|
group | 0.050 | None | 1.000 | 5 | 0 | 2011 | 2018 | |||||||||
|
Cbl proto-oncogene like 2 | 0.476 | 0.808 |
|
group | 0.040 | None | 1.000 | 4 | 0 | 2008 | 2019 | |||||||||
|
X inactive specific transcript | 0.522 | 0.808 |
|
group | 0.040 | None | 0.500 | 4 | 0 | 2000 | 2004 | |||||||||
|
mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome | 0.890 | 0.269 |
|
group | 0.040 | None | 1.000 | 4 | 0 | 1998 | 2018 | |||||||||
|
Down syndrome chromosome region | 0.674 | 0.538 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 1993 | 1994 | |||||||||
|
mental retardation, X-linked 49 | 0.821 | 0.385 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 1999 | 2008 | |||||||||
|
X chromosome inactivation center | 0.821 | 0.462 |
|
group | 0.030 | None | 0.667 | 3 | 0 | 1992 | 1997 | |||||||||
|
cystathionine beta-synthase like | 0.540 | 0.808 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2009 | 2014 | |||||||||
|
fragile site, folic acid type, rare, fra(12)(q13.1) | 1.000 | 0.192 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2007 | 2009 | |||||||||
|
arthrogryposis multiplex congenita, neurogenic | 0.682 | 0.615 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2019 | 2019 | |||||||||
|
H4 clustered histone 15 | 0.541 | 0.692 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2017 | 2019 | |||||||||
|
H4 clustered histone 14 | 0.541 | 0.692 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2017 | 2019 | |||||||||
|
mental retardation, non-syndromic, autosomal recessive, 4 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | |||||||||||
|
Potocki-Lupski syndrome | 0.780 | 0.308 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | |||||||||
|
uncharacterized LOC101928437 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | |||||||||||
|
long intergenic non-protein coding RNA 237 | 0.931 | 0.385 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | |||||||||
|
RNA, 7SL, cytoplasmic 263, pseudogene | 0.496 | 0.808 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | |||||||||
|
H3 histone pseudogene 8 | 0.544 | 0.808 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | |||||||||
|
cardiomyopathy, dilated 1B (autosomal dominant) | 0.722 | 0.500 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2003 | 2003 | |||||||||
|
Russell Silver syndrome | 0.578 | 0.692 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 |