Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | aortic valve disease 1 | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar | PMID:28492532 and PMID:30796334 | aortic valve disease 2 | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic valve disease 2 | ClinVar | PMID:16199547 more ... | bicuspid aortic valve disease | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bicuspid aortic valve | ClinVar | PMID:25741868 and PMID:28492532 | Bloom syndrome | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | colorectal cancer | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | craniosynostosis 7 | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | genetic disease | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11739411 more ... | Joubert syndrome 9 | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar | | Loeys-Dietz syndrome 3 | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar | PMID:28492532 and PMID:30796334 | neuronal ceroid lipofuscinosis | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar | PMID:28492532 | polydactyly | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polydactyly | ClinVar | PMID:28492532 and PMID:34953066 | radioulnar synostosis | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | thoracic aortic aneurysm | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 and PMID:32748548 | Tracheoesophageal Fistula | | ISO | SMAD6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tracheoesophageal fistula | ClinVar | PMID:32641753 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
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