Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
LPL P06858 lipoprotein lipase Enzyme 1.3E-09 0.474 0.808
MMACHC Q9Y4U1 metabolism of cobalamin associated C 1.1E-13 0.644 0.615
LIPA P38571 lipase A, lysosomal acid type Enzyme 5.5E-07 0.564 0.654
MMAA Q8IVH4 metabolism of cobalamin associated A 9.4E-13 0.743 0.346
MMADHC Q9H3L0 metabolism of cobalamin associated D 2.1E-05 0.751 0.385