Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | AGAT deficiency | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar | PMID:28492532 | Bloom syndrome | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | colorectal cancer | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | congenital hypothyroidism | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hypothyroidism | ClinVar | PMID:12110737 more ... | familial thyroid dyshormonogenesis | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis | ClinVar | PMID:12110737 more ... | genetic disease | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12110737 more ... | Idiopathic Basal Ganglia Calcification 1 | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar | | Meckel Syndrome 11 | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Meckel syndrome and type 11 | ClinVar | PMID:21565790 more ... | thyroid dyshormonogenesis 6 | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12110737 more ... | thyroid gland disease | | ISO | DUOX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
