Source: CLINVAR ×
Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
ADNP | Q9H2P0 | activity dependent neuroprotector homeobox | 1.00 | 0.561 | 0.808 | |
DDX3X | O00571 | DEAD-box helicase 3 X-linked | 1.00 | 0.537 | 0.769 | |
FGFR2 | P21802 | fibroblast growth factor receptor 2 | Kinase | 1.00 | 0.380 | 0.808 |
HUWE1 | Q7Z6Z7 | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Enzyme | 1.00 | 0.534 | 0.769 |
MECP2 | P51608 | methyl-CpG binding protein 2 | Epigenetic regulator | 0.89 | 0.414 | 0.846 |
SYNGAP1 | Q96PV0 | synaptic Ras GTPase activating protein 1 | Enzyme modulator | 1.00 | 0.584 | 0.577 |