Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | HTRA1 | Green Monkey | 2-Methylbutyryl-CoA Dehydrogenase Deficiency | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase | ClinVar | PMID:20547083 more ... | HTRA1 | Green Monkey | age related macular degeneration 7 | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | HTRA1 | Green Monkey | CADASIL | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar | PMID:25741868 and PMID:28492532 | HTRA1 | Green Monkey | CADASIL2 | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19387015 more ... | HTRA1 | Green Monkey | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11889251 more ... | HTRA1 | Green Monkey | Cognitive Dysfunction | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cognitive impairment | ClinVar | PMID:19387015 more ... | HTRA1 | Green Monkey | craniosynostosis | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis | ClinVar | PMID:17873121 more ... | HTRA1 | Green Monkey | epilepsy | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:19387015 more ... | HTRA1 | Green Monkey | genetic disease | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | HTRA1 | Green Monkey | macular degeneration | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:18164066 more ... | HTRA1 | Green Monkey | vascular dementia | | ISO | HTRA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | PMID:24500651 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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