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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
component of oligomeric golgi complex 4 | 0.631 | 0.615 | 4.0E-09 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
activator of transcription and developmental regulator AUTS2 | 0.569 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heterogeneous nuclear ribonucleoprotein K | 0.539 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 | 0.599 | 0.654 | 2.3E-06 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
glutamine rich 1 | 0.716 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATP binding cassette subfamily C member 8 | 0.474 | 0.846 | 8.0E-24 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
elongation factor like GTPase 1 | 0.638 | 0.577 | 5.1E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
thyroid hormone receptor interactor 12 | 0.678 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
cytoplasmic linker associated protein 1 | 0.751 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
zinc metallopeptidase STE24 | 0.517 | 0.731 | 8.9E-16 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein O-mannosyltransferase 1 | 0.525 | 0.615 | 4.2E-17 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Snf2 related CREBBP activator protein | 0.610 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
lysine methyltransferase 2B | 0.529 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
sodium voltage-gated channel alpha subunit 4 | 0.554 | 0.731 | 1.3E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2004 | 2008 | ||||||||
|
tubulin beta 6 class V | 0.686 | 0.462 | 1.7E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 |