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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
bromodomain and PHD finger containing 1 | 0.686 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SOS Ras/Rac guanine nucleotide exchange factor 1 | 0.485 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ribosomal protein L5 | 0.617 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kelch like family member 7 | 0.581 | 0.731 | 4.6E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
divergent protein kinase domain 1A | 0.743 | 0.423 | 0.58 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
unc-80 homolog, NALCN channel complex subunit | 0.626 | 0.462 | 5.2E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dynein cytoplasmic 2 heavy chain 1 | 0.555 | 0.731 | 1.1E-44 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 3 | 2012 | 2015 | ||||||||
|
ASXL transcriptional regulator 3 | 0.590 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
RAD21 cohesin complex component | 0.528 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
UTP23 small subunit processome component | 0.711 | 0.385 | 8.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 |