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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar | PMID:10439968 more ... | amyotrophic lateral sclerosis type 1 | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10321246 more ... | amyotrophic lateral sclerosis type 1 | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:7496169 more ... | amyotrophic lateral sclerosis type 1 | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10321246 more ... | amyotrophic lateral sclerosis type 1 | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:9455977 more ... | amyotrophic lateral sclerosis type 10 | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar | PMID:11464950 more ... | autosomal dominant intellectual developmental disorder 7 | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar | PMID:17237124 more ... | genetic disease | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:14506936 more ... | motor neuron disease | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Motor neuron disease | ClinVar | PMID:10400992 more ... | Parkinson's disease 20 | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar | PMID:28492532 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE | | ISO | SOD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia and progressive | ClinVar | PMID:15050437 more ... | |