Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ARTERIAL DISSECTION | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Arterial dissection | ClinVar | | congenital contractural arachnodactyly | | ISO | RGD:733428 | 8554872 | ClinVar more ... | ClinVar | PMID:10797416 more ... | connective tissue disease | | ISO | RGD:733428 | 8554872 | ClinVar more ... | ClinVar | PMID:16835936 more ... | craniosynostosis | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Craniosynostosis | ClinVar | PMID:25741868, PMID:28492532 | Craniosynostosis Syndrome, Autosomal Recessive | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:25741868, PMID:28492532 | Developmental Disabilities | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:30311386 | distal arthrogryposis type 7 | | ISO | RGD:733428 | 8554872 | ClinVar more ... | ClinVar | PMID:11754102 more ... | distal arthrogryposis type 7 | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar | PMID:11754102 more ... | Ehlers-Danlos syndrome | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome | ClinVar | PMID:16835936 more ... | familial adenomatous polyposis 1 | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | Familial Thoracic Aortic Aneurysm 2 | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 | ClinVar | | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:25558065 | genetic disease | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10797416 more ... | Hereditary Neoplastic Syndromes | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | High Myopia | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: High myopia | ClinVar | | intracranial aneurysm | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Brain aneurysm | ClinVar | PMID:16835936 more ... | Loeys-Dietz syndrome | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar | PMID:25741868, PMID:28492532 | Macular Degeneration, Early-Onset | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Macular degeneration, early-onset | ClinVar | PMID:16835936 more ... | Marfan syndrome | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Marfan syndrome | ClinVar | PMID:25741868 more ... | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | RGD:733428 | 8554872 | ClinVar more ... | ClinVar | PMID:25741868, PMID:28492532 | prostate cancer | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | pyridoxine-dependent epilepsy | | ISO | RGD:733428 | 8554872 | ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy | ClinVar | PMID:28492532 | thoracic aortic aneurysm | | ISO | RGD:733428 | 8554872 | ClinVar more ... | ClinVar | PMID:11536364 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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