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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 13 | 2001 | 2006 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 4 | 2006 | 2006 | ||||||||
|
transforming growth factor beta receptor 2 | 0.413 | 0.846 | 0.13 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
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 | ||||||||
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | 0.674 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Ras like without CAAX 1 | 0.527 | 0.808 | 0.13 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 12 member 6 | 0.603 | 0.500 | 1.1E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ret proto-oncogene | 0.392 | 0.885 | 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 | |||||||||||
|
lysine methyltransferase 2C | 0.558 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
SOS Ras/Rac guanine nucleotide exchange factor 1 | 0.485 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SRY-box transcription factor 10 | 0.461 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
TOPBP1 interacting checkpoint and replication regulator | 0.769 | 0.423 | 7.2E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
embryonic ectoderm development | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ubiquitin specific peptidase 9 X-linked | 0.502 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
partner and localizer of BRCA2 | 0.485 | 0.769 | 3.0E-19 |
|
phenotype | 0.100 | None | 0 | 1 |