Source: CLINVAR ×
Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
ACTL6B | O94805 | actin like 6B | Cellular structure | 2.8E-04 | 0.656 | 0.462 |
ADGRG1 | Q9Y653 | adhesion G protein-coupled receptor G1 | G-protein coupled receptor | 5.3E-10 | 0.590 | 0.654 |
AFF3 | P51826 | AF4/FMR2 family member 3 | Transcription factor | 1.00 | 0.623 | 0.692 |
AHDC1 | Q5TGY3 | AT-hook DNA binding motif containing 1 | 1.00 | 0.700 | 0.500 | |
ANKRD11 | Q6UB99 | ankyrin repeat domain 11 | 1.00 | 0.556 | 0.808 | |
ARID1B | Q8NFD5 | AT-rich interaction domain 1B | 1.00 | 0.503 | 0.846 | |
ARID2 | Q68CP9 | AT-rich interaction domain 2 | 1.00 | 0.543 | 0.808 | |
ASXL1 | Q8IXJ9 | ASXL transcriptional regulator 1 | 1.3E-14 | 0.482 | 0.808 | |
ATP1A3 | P13637 | ATPase Na+/K+ transporting subunit alpha 3 | Transporter | 1.00 | 0.544 | 0.615 |
ATP6V1A | P38606 | ATPase H+ transporting V1 subunit A | Transporter | 0.87 | 0.579 | 0.615 |
BBS2 | Q9BXC9 | Bardet-Biedl syndrome 2 | 1.0E-17 | 0.565 | 0.654 | |
BRSK2 | Q8IWQ3 | BR serine/threonine kinase 2 | Kinase | 0.95 | 0.700 | 0.500 |
CACNA1A | O00555 | calcium voltage-gated channel subunit alpha1 A | Ion channel | 1.00 | 0.489 | 0.769 |
CAMK2A | Q9UQM7 | calcium/calmodulin dependent protein kinase II alpha | Kinase | 1.00 | 0.612 | 0.538 |
CAMK2B | Q13554 | calcium/calmodulin dependent protein kinase II beta | Kinase | 0.74 | 0.626 | 0.538 |
CDK13 | Q14004 | cyclin dependent kinase 13 | Kinase | 0.91 | 0.606 | 0.692 |
CDKL5 | O76039 | cyclin dependent kinase like 5 | Kinase | 1.00 | 0.522 | 0.692 |
COL6A1 | P12109 | collagen type VI alpha 1 chain | Receptor | 1.00 | 0.587 | 0.731 |
CTNNB1 | P35222 | catenin beta 1 | 1.00 | 0.303 | 0.885 | |
DDX3X | O00571 | DEAD-box helicase 3 X-linked | 1.00 | 0.537 | 0.769 | |
DHX30 | Q7L2E3 | DExH-box helicase 30 | Enzyme | 1.00 | 0.722 | 0.500 |
DYNC1H1 | Q14204 | dynein cytoplasmic 1 heavy chain 1 | Enzyme | 1.00 | 0.547 | 0.769 |
DYRK1A | Q13627 | dual specificity tyrosine phosphorylation regulated kinase 1A | Kinase | 1.00 | 0.533 | 0.769 |
EFTUD2 | Q15029 | elongation factor Tu GTP binding domain containing 2 | Enzyme | 1.00 | 0.647 | 0.462 |
EHMT1 | Q9H9B1 | euchromatic histone lysine methyltransferase 1 | Epigenetic regulator | 1.00 | 0.460 | 0.808 |