Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bloom syndrome | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | colorectal cancer | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | D-2-hydroxyglutaric aciduria 2 | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 | ClinVar | PMID:28492532 | Dwarfism | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | | genetic disease | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16080123 more ... | osteochondritis dissecans | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteochondritis dissecans | ClinVar | PMID:16080123 more ... | SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14216462 more ... | Spondyloepimetaphyseal Dysplasia, Aggrecan Type | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia and aggrecan type | ClinVar | PMID:19110214 more ... | spondyloepiphyseal dysplasia Kimberley type | | ISO | ACAN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia and Kimberley type | ClinVar | PMID:16080123 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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Imported Disease Annotations - OMIM
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