Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | developmental and epileptic encephalopathy 14 | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14 | ClinVar | PMID:28492532 | Ehlers-Danlos syndrome classic type 1 | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and classic type | ClinVar | PMID:28492532 | genetic disease | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | hepatocellular carcinoma | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar | PMID:26619011 | Kleefstra syndrome 1 | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:22318994 more ... | Leigh disease | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 | multiple myeloma | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple myeloma | ClinVar | | pancreatic adenocarcinoma | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pancreatic adenocarcinoma | ClinVar | PMID:26619011 | primary coenzyme Q10 deficiency 7 | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | Rafiq syndrome | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:28492532 | transitional cell carcinoma | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder | ClinVar | PMID:26619011 | tuberous sclerosis 1 | | ISO | RXRA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 1 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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