Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462
HJV Q6ZVN8 hemojuvelin BMP co-receptor 4.2E-03 0.621 0.654
CP P00450 ceruloplasmin Enzyme 4.2E-10 0.466 0.846
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731