| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
immunoglobulin heavy variable 4-38-2-like | 0.514 | 0.769 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | |||||||||
|
putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 | 0.527 | 0.769 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | |||||||||
|
H3 histone pseudogene 9 | 0.505 | 0.731 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | |||||||||
|
cataract, anterior polar 1 | 0.568 | 0.731 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | |||||||||
|
arthrogryposis multiplex congenita, neurogenic | 0.682 | 0.615 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | |||||||||
|
immunoglobulin heavy variable 3/OR16-7 (pseudogene) | 0.566 | 0.654 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | |||||||||
|
immunoglobulin heavy variable 3-69-1 (pseudogene) | 0.561 | 0.654 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | |||||||||
|
immunoglobulin heavy locus | 0.473 | 0.654 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | |||||||||
|
gamma-glutamyltransferase light chain 5 pseudogene | 0.513 | 0.846 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | |||||||||
|
gamma-glutamyltransferase light chain family member 3 | 0.513 | 0.846 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | |||||||||
|
gamma-glutamyltransferase light chain 4 pseudogene | 0.513 | 0.846 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | |||||||||
|
Laryngeal adductor paralysis | 0.619 | 0.731 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1990 | 1990 | |||||||||
|
myomesin 2 | 0.570 | 0.692 | 7.0E-85 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
tet methylcytosine dioxygenase 2 | 0.458 | 0.808 | 4.3E-54 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
pregnancy specific beta-1-glycoprotein 2 | 0.492 | 0.731 | 1.4E-30 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
interleukin 3 receptor subunit alpha | 0.560 | 0.769 | 3.0E-27 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
ATP binding cassette subfamily C member 3 | 0.517 | 0.769 | 1.2E-26 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
glutamic--pyruvic transaminase | 0.403 | 0.923 | 3.6E-19 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2018 | 2019 | ||||||||
|
ATP binding cassette subfamily B member 6 (Langereis blood group) | 0.431 | 0.885 | 8.6E-19 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
matrix metallopeptidase 9 | 0.305 | 0.923 | 1.9E-17 |
|
phenotype | 0.020 | None | 1.000 | 1 | 0 | 2002 | 2011 | ||||||||
|
mevalonate diphosphate decarboxylase | 0.568 | 0.769 | 2.7E-17 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
patched 2 | 0.563 | 0.692 | 3.4E-16 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
integrin subunit beta 2 | 0.444 | 0.923 | 5.1E-15 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 2001 | 2001 | ||||||||
|
myeloperoxidase | 0.377 | 0.923 | 7.1E-15 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2014 | 2018 | ||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.020 | None | 0.500 | 2 | 0 | 2017 | 2018 |