Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Mtrr | Chinchilla | Down syndrome | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Down syndrome and susceptibility to | ClinVar | PMID:10444342 more ... | Mtrr | Chinchilla | Folate-Sensitive Neural Tube Defects | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10444342 more ... | Mtrr | Chinchilla | gastrointestinal stromal tumor | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10444342 more ... | Mtrr | Chinchilla | genetic disease | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10484769 more ... | Mtrr | Chinchilla | homocystinuria | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria | ClinVar | PMID:10484769 more ... | Mtrr | Chinchilla | homocystinuria-megaloblastic anemia cblE type | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE | ClinVar | PMID:10444342 more ... | Mtrr | Chinchilla | homocystinuria-megaloblastic anemia cblG type | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG | ClinVar | PMID:25741868 | Mtrr | Chinchilla | inherited metabolic disorder | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism | ClinVar | PMID:10444342 more ... | Mtrr | Chinchilla | methylmalonic aciduria and homocystinuria type cblG | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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