Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Brain-Lung-Thyroid Syndrome | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11854318 more ... | choreatic disease | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Benign hereditary chorea | ClinVar | PMID:11971878 more ... | dystonia | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonic disorder | ClinVar | PMID:18788921 more ... | genetic disease | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11971878 more ... | hereditary ataxia | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary ataxia | ClinVar | PMID:24453141 more ... | idiopathic pulmonary fibrosis | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Interstitial lung disease 2 | ClinVar | PMID:25741868 and PMID:28492532 | lung adenocarcinoma | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung adenocarcinoma | ClinVar | PMID:27993330 | multiple myeloma | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple myeloma | ClinVar | | Neurodevelopmental Disorders | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 and PMID:26723978 | primary cerebellar degeneration | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary ataxia | ClinVar | PMID:24453141 more ... | squamous cell carcinoma | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell carcinoma | ClinVar | PMID:27993330 | Thyroid Carcinoma, Nonmedullary 1 | | ISO | NKX2-1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thyroid cancer more ... | ClinVar | PMID:19176457 more ... | |