Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HBB P68871 hemoglobin subunit beta 1.2E-09 0.494 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
TTR P02766 transthyretin Transporter 0.52 0.423 0.885
G6PC P35575 glucose-6-phosphatase catalytic subunit 1.8E-05 0.560 0.692
DKC1 O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 1.00 0.547 0.769
HBA2 P69905 hemoglobin subunit alpha 2 3.1E-03 0.512 0.808
FOXP3 Q9BZS1 forkhead box P3 0.99 0.368 0.846
LCAT P04180 lecithin-cholesterol acyltransferase Enzyme 8.1E-02 0.588 0.654
ANK1 P16157 ankyrin 1 1.00 0.540 0.885