SUMF1, sulfatase modifying factor 1, 285362

N. diseases: 80; N. variants: 33
Disease: Chondrodysplasia Punctata ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		0.010 Biomarker disease BEFREE When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. 29397290 2018