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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
VPS53 subunit of GARP complex | 0.659 | 0.654 | 1.4E-07 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1989 | 1989 | ||||||||
|
calcium voltage-gated channel auxiliary subunit alpha2delta 2 | 0.626 | 0.615 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
dopa decarboxylase | 0.535 | 0.769 | 3.8E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
zinc finger protein 335 | 0.711 | 0.462 | 6.9E-07 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
STT3 oligosaccharyltransferase complex catalytic subunit A | 0.670 | 0.577 | 2.0E-03 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
STT3 oligosaccharyltransferase complex catalytic subunit B | 0.760 | 0.385 | 1.00 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
tRNA isopentenyltransferase 1 | 0.621 | 0.692 | 4.1E-11 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
progesterone immunomodulatory binding factor 1 | 0.670 | 0.462 | 1.9E-11 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
TBC1 domain family member 20 | 0.621 | 0.500 | 0.93 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
adaptor related protein complex 4 subunit sigma 1 | 0.674 | 0.385 | 1.7E-06 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
lysine demethylase 5C | 0.581 | 0.538 | 1.00 |
|
phenotype | 0.310 | None | 1.000 | 2 | 0 | 2008 | 2016 | ||||||||
|
diaphanous related formin 1 | 0.623 | 0.654 | 0.92 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
4-aminobutyrate aminotransferase | 0.628 | 0.538 | 6.3E-03 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
lysine demethylase 1A | 0.512 | 0.808 | 1.00 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
glycine receptor alpha 1 | 0.628 | 0.500 | 1.6E-04 |
|
phenotype | 0.310 | moderate | 1.000 | 2 | 0 | 1992 | 2017 | ||||||||
|
spectrin beta, non-erythrocytic 2 | 0.619 | 0.731 | 9.9E-05 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
upstream binding transcription factor | 0.705 | 0.462 | 1.00 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
Rac family small GTPase 1 | 0.429 | 0.962 | 0.76 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
actin like 6A | 0.678 | 0.346 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
solute carrier family 5 member 6 | 0.674 | 0.577 | 6.1E-03 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
trafficking protein particle complex 12 | 0.751 | 0.385 | 5.4E-16 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.320 | strong | 1.000 | 1 | 0 | 2007 | 2017 | ||||||||
|
NBAS subunit of NRZ tethering complex | 0.566 | 0.692 | 5.0E-43 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 2015 | 2017 | ||||||||
|
insulin like growth factor 1 receptor | 0.399 | 0.885 | 0.97 |
|
phenotype | 0.320 | strong | 1.000 | 1 | 0 | 2013 | 2017 | ||||||||
|
spartin | 0.588 | 0.654 | 3.0E-07 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2017 | 2017 |