Source: CLINVAR
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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2014 | 2017 | ||||||||
|
POC1 centriolar protein B | 0.705 | 0.385 | 3.0E-08 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2014 | 2014 | ||||||||
|
adaptor related protein complex 4 subunit beta 1 | 0.631 | 0.654 | 1.3E-09 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2011 | 2012 | ||||||||
|
AP4B1 antisense RNA 1 | 0.805 | 0.231 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2011 | 2012 | |||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 1999 | 2017 | ||||||||
|
abnormal spindle microtubule assembly | 0.526 | 0.769 | 3.4E-49 |
|
phenotype | 0.100 | None | 1.000 | 2 | 5 | 2002 | 2009 | ||||||||
|
kinesin family member 11 | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 3 | 2014 | 2014 | ||||||||
|
exocyst complex component 6B | 0.682 | 0.577 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
peroxisomal biogenesis factor 5 | 0.561 | 0.731 | 5.6E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 17 | 2015 | 2015 | ||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
syntaxin 7 | 0.821 | 0.231 | 5.0E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
ovo like zinc finger 2 | 0.633 | 0.462 | 0.71 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2017 | 2017 | ||||||||
|
ABL proto-oncogene 1, non-receptor tyrosine kinase | 0.432 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
iron-sulfur cluster assembly 1 | 0.792 | 0.231 | 0.17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
calcium/calmodulin dependent protein kinase II beta | 0.626 | 0.538 | 0.74 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
lysine acetyltransferase 6A | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
RAD21 cohesin complex component | 0.528 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
RAS like proto-oncogene A | 0.656 | 0.577 | 0.97 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
transmembrane protein 87B | 0.861 | 0.115 | 3.7E-13 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 1.000 | 1 | 5 | 2016 | 2016 | ||||||||
|
histone deacetylase 8 | 0.511 | 0.885 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
NIPBL cohesin loading factor | 0.521 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 |