Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ataxia | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sensory ataxia | ClinVar | PMID:25741868 and PMID:28492532 | autosomal recessive distal hereditary motor neuronopathy | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuronopathy more ... | ClinVar | PMID:17576681 more ... | Bethlem myopathy | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy and benign congenital | ClinVar | PMID:15563506 more ... | Bethlem myopathy | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy more ... | ClinVar | PMID:15563506 more ... | Bethlem Myopathy 1A | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11992252 more ... | Bethlem Myopathy 1A | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11992252 more ... | Bethlem Myopathy 1C | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bethlem myopathy 1C | ClinVar | PMID:15689448 more ... | chromosome 2q37 deletion syndrome | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 | Collagen VI-related Myopathy | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Collagen VI-related myopathy | ClinVar | PMID:15563506 more ... | D-2-hydroxyglutaric aciduria 1 | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 | ClinVar | PMID:16081310 more ... | dystonia 27 | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 27 | ClinVar | PMID:15689448 more ... | genetic disease | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15689448 more ... | hereditary spastic paraplegia 30 | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar | PMID:16081310 more ... | intellectual disability | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | Leigh disease | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | Muscle Weakness | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscle weakness | ClinVar | PMID:28492532 | muscular atrophy | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular atrophy | ClinVar | PMID:25741868 and PMID:28492532 | muscular dystrophy | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:17576681 more ... | myopathy | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:18414213 more ... | Ullrich congenital muscular dystrophy 1A | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11992252 more ... | Ullrich congenital muscular dystrophy 1C | | ISO | COL6A3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C | ClinVar | PMID:11992252 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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