Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731