ARSA, arylsulfatase A, 410

N. diseases: 376; N. variants: 158
Disease: Metachromatic leukodystrophy, juvenile type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		0.430 GeneticVariation disease BEFREE Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations. 16608548 2006
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		0.430 GeneticVariation disease BEFREE Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. 1684088 1991
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		0.430 GeneticVariation disease BEFREE Arylsulfatase A polypeptides were examined in cultured fibroblasts from a patient with juvenile metachromatic leukodystrophy and three patients with the adult form of the disease, with the aid of metabolic labeling and immunoprecipitation. 6136972 1983
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		0.430 CausalMutation disease CLINVAR
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		0.430 Biomarker disease CTD_human