ARSG, arylsulfatase G, 22901

N. diseases: 48; N. variants: 11
Disease: Usher Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.110 GeneticVariation disease BEFREE A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 29300381 2018
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.110 CausalMutation disease CLINVAR