Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
PGK1 P00558 phosphoglycerate kinase 1 Kinase 0.77 0.542 0.769
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ADAMTS13 Q76LX8 ADAM metallopeptidase with thrombospondin type 1 motif 13 Enzyme 5.1E-15 0.496 0.769
NLRP3 Q96P20 NLR family pyrin domain containing 3 8.1E-04 0.361 0.962
RUNX1 Q01196 RUNX family transcription factor 1 Transcription factor 0.65 0.425 0.808
CYBA P13498 cytochrome b-245 alpha chain 8.9E-06 0.520 0.769
RAB27A P51159 RAB27A, member RAS oncogene family 3.0E-07 0.585 0.692
LYST Q99698 lysosomal trafficking regulator 1.5E-02 0.621 0.692
HCN4 Q9Y3Q4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 Ion channel 1.00 0.617 0.269