Disease: Profound global developmental delay
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
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PTCH1 Q13635 patched 1 1.00 0.398 0.885
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731