Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis type 20 | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20 | ClinVar | PMID:23455423 and PMID:25741868 | distal myopathy 3 | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy more ... | ClinVar | PMID:12847162 and PMID:34722876 | genetic disease | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | ClinVar | PMID:20116073 more ... | inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar | PMID:23455423 and PMID:25741868 | Neurodevelopmental Disorders | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | primary progressive multiple sclerosis | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic progressive multiple sclerosis | ClinVar | | relapsing-remitting multiple sclerosis | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis | ClinVar | | secondary progressive multiple sclerosis | | ISO | HNRNPA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic progressive multiple sclerosis | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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