Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692