Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aicardi-Goutieres Syndrome 3 | | ISO | CCND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar | PMID:28492532 | colorectal cancer | | ISO | CCND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal cancer and susceptibility to | ClinVar | PMID:10667569 more ... | genetic disease | | ISO | CCND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | intellectual disability | | ISO | CCND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | multiple myeloma | | ISO | CCND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MULTIPLE MYELOMA more ... | ClinVar | PMID:10667569 more ... | Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations | | ISO | CCND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infections more ... | ClinVar | PMID:28492532 | von Hippel-Lindau disease | | ISO | CCND1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME and MODIFIER OF | ClinVar | PMID:10667569 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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