Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
MATN4 O95460 matrilin 4 Receptor 1.1E-08 0.769 0.308
HERC1 Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 1.00 0.674 0.500