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 |
|
disease | 0.100 | None | 1.000 | 21 | 0 | 2005 | 2019 | |||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 0.200 | None | 1.000 | 10 | 0 | 2010 | 2020 | ||||||||
|
tRNA nucleotidyl transferase 1 | 0.700 | 0.192 | 1.6E-04 |
|
disease | 0.160 | None | 1.000 | 6 | 0 | 2014 | 2019 | ||||||||
|
neurexin 1 | 0.581 | 0.692 | 1.00 |
|
disease | 0.060 | None | 1.000 | 6 | 0 | 2011 | 2019 | ||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
disease | 0.150 | None | 1.000 | 5 | 0 | 2007 | 2014 | ||||||||
|
forkhead box P1 | 0.460 | 0.808 | 1.00 |
|
disease | 0.050 | None | 1.000 | 5 | 0 | 2013 | 2018 | ||||||||
|
spectrin beta, non-erythrocytic 2 | 0.619 | 0.731 | 9.9E-05 |
|
disease | 0.440 | moderate | 1.000 | 5 | 0 | 2013 | 2019 | ||||||||
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 0.530 | 0.692 | 0.98 |
|
disease | 0.150 | None | 1.000 | 5 | 0 | 2008 | 2013 | ||||||||
|
N-alpha-acetyltransferase 10, NatA catalytic subunit | 0.535 | 0.692 | 0.76 |
|
disease | 0.150 | None | 1.000 | 5 | 0 | 2015 | 2019 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
disease | 0.140 | None | 0.750 | 4 | 0 | 1992 | 2018 | ||||||||
|
arylsulfatase D | 0.535 | 0.808 | 1.6E-03 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 2013 | 2019 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 0.140 | None | 1.000 | 4 | 0 | 2002 | 2020 | ||||||||
|
chromodomain helicase DNA binding protein 8 | 0.656 | 0.577 | 1.00 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 2014 | 2019 | ||||||||
|
SRY-box transcription factor 5 | 0.545 | 0.769 | 1.00 |
|
disease | 0.140 | None | 1.000 | 4 | 0 | 2013 | 2017 | ||||||||
|
forkhead box P2 | 0.545 | 0.808 | 1.00 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 2006 | 2017 | ||||||||
|
stromal antigen 2 | 0.568 | 0.731 | 1.00 |
|
disease | 0.420 | strong | 1.000 | 3 | 0 | 2015 | 2019 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
disease | 0.420 | strong | 1.000 | 3 | 0 | 2007 | 2017 | ||||||||
|
gamma-aminobutyric acid type A receptor subunit beta3 | 0.546 | 0.615 | 0.95 |
|
disease | 0.130 | None | 1.000 | 3 | 0 | 1998 | 2018 | ||||||||
|
SH2B adaptor protein 1 | 0.566 | 0.731 | 0.97 |
|
disease | 0.130 | None | 1.000 | 3 | 0 | 2010 | 2017 | ||||||||
|
argonaute RISC component 1 | 0.656 | 0.577 | 1.00 |
|
disease | 0.320 | moderate | 1.000 | 3 | 0 | 2015 | 2018 | ||||||||
|
glycine receptor alpha 1 | 0.628 | 0.500 | 1.6E-04 |
|
disease | 0.310 | moderate | 1.000 | 3 | 0 | 1992 | 2017 | ||||||||
|
insulin like growth factor 1 receptor | 0.399 | 0.885 | 0.97 |
|
disease | 0.420 | strong | 1.000 | 3 | 0 | 2013 | 2017 | ||||||||
|
myocyte enhancer factor 2C | 0.517 | 0.769 | 1.7E-02 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 2010 | 2015 | ||||||||
|
paired box 6 | 0.450 | 0.769 | 1.00 |
|
disease | 0.130 | None | 1.000 | 3 | 0 | 1997 | 2014 | ||||||||
|
N-glycanase 1 | 0.601 | 0.654 | 1.5E-13 |
|
disease | 0.130 | None | 1.000 | 3 | 0 | 2017 | 2018 |