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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:25741868 | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:17576681 more ... | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:16199547 and PMID:28492532 | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:23286897 and PMID:28492532 | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:28492532 and PMID:34440436 | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:10655068 more ... | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:12438241 more ... | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:20558530 | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:28492532 | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:28492532 | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:20818383 more ... | AMACR | Human | alpha-methylacyl-CoA racemase deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency | ClinVar | PMID:28492532 | AMACR | Human | congenital bile acid synthesis defect 4 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | | AMACR | Human | congenital bile acid synthesis defect 4 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 | ClinVar | PMID:25741868 | AMACR | Human | congenital bile acid synthesis defect 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: AMACR-related condition | ClinVar | PMID:28492532 | AMACR | Human | congenital bile acid synthesis defect 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | AMACR | Human | congenital bile acid synthesis defect 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AMACR-related condition | ClinVar | PMID:12438241 more ... | AMACR | Human | congenital bile acid synthesis defect 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 | ClinVar | PMID:10655068 more ... | AMACR | Human | congenital bile acid synthesis defect 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 | ClinVar | PMID:20818383 more ... | AMACR | Human | congenital bile acid synthesis defect 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 | ClinVar | PMID:10655068 and PMID:9584266 | AMACR | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | AMACR | Human | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | AMACR | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | AMACR | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10655068 more ... | AMACR | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | AMACR | Human | mitochondrial complex I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar | PMID:20818383 more ... | AMACR | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | AMACR | Human | oculocutaneous albinism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Oculocutaneous albinism | ClinVar | PMID:25741868 and PMID:28492532 | AMACR | Human | oculocutaneous albinism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Oculocutaneous albinism | ClinVar | | AMACR | Human | oculocutaneous albinism | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Oculocutaneous albinism | ClinVar | PMID:25741868 | AMACR | Human | spastic ataxia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:25741868 | |