ARSG, arylsulfatase G, 22901

N. diseases: 48; N. variants: 11
Disease: USHER SYNDROME, TYPE IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		0.600 Biomarker disease GENOMICS_ENGLAND A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 29300381 2018
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		0.600 GeneticVariation disease UNIPROT A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 29300381 2018
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		0.600 Biomarker disease GENOMICS_ENGLAND Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. 22689975 2012
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		0.600 CausalMutation disease CLINVAR