| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
actin gamma 1 | 0.477 | 0.846 | 4.8E-03 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 1 | 1996 | 2009 | ||||||||
|
adhesion G protein-coupled receptor V1 | 0.572 | 0.731 | 3.2E-39 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 7 | 1998 | 2019 | ||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AMMECR nuclear protein 1 | 0.659 | 0.692 | 0.82 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
anaphase promoting complex subunit 15 | 1.000 | 0.115 | 0.30 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
phenotype | 0.470 | strong | 1.000 | 0 | 15 | 1989 | 2019 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 2 | 2014 | 2018 | ||||||||
|
chromosome 10 open reading frame 105 | 0.861 | 0.231 | 8.4E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
claudin 14 | 0.705 | 0.462 | 1.1E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2012 | 2012 | ||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2012 | 2012 | ||||||||
|
collagen type IV alpha 4 chain | 0.644 | 0.500 | 6.7E-16 |
|
phenotype | 0.110 | None | 1.000 | 0 | 2 | 2002 | 2002 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 1 | 1995 | 1997 | ||||||||
|
creatine kinase, mitochondrial 1B | 0.729 | 0.346 | 3.2E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cyclin dependent kinase 20 | 0.682 | 0.462 | 5.9E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DDB1 and CUL4 associated factor 17 | 0.653 | 0.577 | 3.7E-07 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
dentin sialophosphoprotein | 0.556 | 0.769 | 1.1E-07 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 1997 | 1997 | ||||||||
|
DExH-box helicase 30 | 0.722 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
endothelin receptor type B | 0.470 | 0.846 | 9.2E-03 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
ERCC excision repair 2, TFIIH core complex helicase subunit | 0.420 | 0.846 | 7.1E-20 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
ERCC excision repair 3, TFIIH core complex helicase subunit | 0.504 | 0.846 | 3.4E-11 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
espin | 0.700 | 0.385 | 2.9E-09 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2006 | 2008 | ||||||||
|
euchromatic histone lysine methyltransferase 1 | 0.460 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |