Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
SMO Q99835 smoothened, frizzled class receptor G-protein coupled receptor 4.3E-07 0.489 0.731
HJV Q6ZVN8 hemojuvelin BMP co-receptor 4.2E-03 0.621 0.654