SULF1, sulfatase 1, 23213

N. diseases: 83; N. variants: 3
Disease: Chondrodysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.010 Biomarker disease BEFREE Our results strongly suggest that haploinsufficiency of SULF1 contributes to this mesomelic chondrodysplasia, highlighting the critical role of endosulfatase in human skeletal development. 20602915 2010