| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
microRNA 137 | 0.513 | 0.846 |
|
phenotype | 0.050 | None | 1.000 | 5 | 0 | 2013 | 2019 | |||||||||
|
FMR1 intronic transcript 1 | 0.716 | 0.385 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1995 | 2009 | |||||||||
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) | 0.641 | 0.462 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1995 | 2009 | |||||||||
|
Gilles de la Tourette syndrome | 0.682 | 0.615 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 1990 | 2017 | |||||||||
|
neurofilament light | 0.488 | 0.769 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 2019 | 2020 | |||||||||
|
Potocki-Lupski syndrome | 0.780 | 0.308 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2012 | 2014 | |||||||||
|
LINC02210-CRHR1 readthrough | 0.570 | 0.692 |
|
phenotype | 0.020 | None | 1.000 | 2 | 1 | 2010 | 2019 | |||||||||
|
solute carrier family 6 member 4 gene promoter | 0.626 | 0.423 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2004 | 2013 | |||||||||
|
p53-responsive gene 1 | 0.839 | 0.231 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2016 | 2018 | |||||||||
|
Pulmonary disease, chronic obstructive, severe early-onset | 0.456 | 0.885 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2017 | 2018 | |||||||||
|
DAOA antisense RNA 1 | 0.729 | 0.154 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2009 | 2014 | |||||||||
|
HTLV-1 related endogenous sequence | 0.636 | 0.615 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2016 | 2019 | |||||||||
|
interferon alpha 1 | 0.371 | 0.923 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2012 | 2019 | |||||||||
|
interferon alpha 13 | 0.374 | 0.923 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2012 | 2019 | |||||||||
|
microRNA 132 | 0.485 | 0.846 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2017 | 2019 | |||||||||
|
microRNA 155 | 0.384 | 0.885 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2017 | 2019 | |||||||||
|
Prieto X-linked mental retardation syndrome | 0.663 | 0.615 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2016 | 2018 | |||||||||
|
chromosome 20 open reading frame 181 | 0.479 | 0.885 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | |||||||||
|
centralopathic epilepsy | 0.626 | 0.423 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | |||||||||
|
opsin 1, medium wave sensitive 3 | 0.601 | 0.769 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | |||||||||
|
DISC1 fusion partner 1 | 0.931 | 0.038 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | |||||||||
|
Temple syndrome | 0.780 | 0.154 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | |||||||||
|
MT-CO2 pseudogene 12 | 0.368 | 0.962 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | |||||||||
|
cytochrome P450 2D6 | 0.597 | 0.769 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | |||||||||
|
H3 histone pseudogene 19 | 0.631 | 0.577 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 |