Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | catecholaminergic polymorphic ventricular tachycardia | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar | PMID:28492532 | catecholaminergic polymorphic ventricular tachycardia 1 | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar | PMID:28492532 | dilated cardiomyopathy 1AA | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA | ClinVar | PMID:28492532 | epilepsy | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:12068375 more ... | epilepsy | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | PMID:12068375 more ... | Folate-Sensitive Neural Tube Defects | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10323741 more ... | gastrointestinal stromal tumor | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10323741 more ... | genetic disease | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12068375 more ... | homocystinuria | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Homocystinuria | ClinVar | PMID:12068375 more ... | homocystinuria-megaloblastic anemia cblG type | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG | ClinVar | PMID:10323741 more ... | homocystinuria-megaloblastic anemia cblG type | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10323741 more ... | inherited metabolic disorder | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism | ClinVar | PMID:10323741 more ... | intellectual disability | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:17576681 more ... | methylmalonic aciduria and homocystinuria type cblG | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10323741 more ... | methylmalonic aciduria and homocystinuria type cblG | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG | ClinVar | PMID:10323741 more ... | parathyroid carcinoma | | ISO | MTR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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