Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
CLCNKB P51801 chloride voltage-gated channel Kb Ion channel 1.4E-22 0.593 0.692