ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Disease: Glaucoma, Primary Open Angle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 GeneticVariation disease BEFREE Analysis of the family history in the <i>CYP1B1</i>-positive families revealed POAG in confirmed or presumed heterozygous relatives in one family with PCG and two families with ASD/CG; POAG was associated with the c.1064_1076del, p.(Arg355Hisfs*69) allele in two of these pedigrees. 27777502 2016