Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:15114530 more ... | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:32557644 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 and PMID:32557644 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ATIC DEFICIENCY | ClinVar | PMID:25741868 and PMID:28492532 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ATIC DEFICIENCY | ClinVar | PMID:25741868 and PMID:28492532 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | PMID:25741868 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency | ClinVar | | brain disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Encephalopathy | ClinVar | PMID:25741868 | Breast Cancer, Familial | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial cancer of breast | ClinVar | PMID:28492532 | chronic kidney disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic kidney disease | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Glomerulopathy with Giant Fibrillar Deposits | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 | ClinVar | PMID:25741868 and PMID:28492532 | Glomerulopathy with Giant Fibrillar Deposits | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 | ClinVar | PMID:25741868 and PMID:28492532 | Glomerulopathy with Giant Fibrillar Deposits | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 | ClinVar | | Glomerulopathy with Giant Fibrillar Deposits | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 | ClinVar | PMID:25741868 and PMID:28492532 | Glomerulopathy with Giant Fibrillar Deposits | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 | ClinVar | PMID:25741868 and PMID:28492532 | Glomerulopathy with Giant Fibrillar Deposits | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 | ClinVar | PMID:25741868 and PMID:28492532 | Glomerulopathy with Giant Fibrillar Deposits | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 | ClinVar | PMID:25741868 and PMID:28492532 | Glomerulopathy with Giant Fibrillar Deposits | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 | ClinVar | PMID:25741868 and PMID:28492532 | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular dystrophy | ClinVar | PMID:25741868 | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular dystrophy | ClinVar | PMID:15114530 more ... | megacolon | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | nephrotic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephrotic syndrome | ClinVar | PMID:29127259 | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | spondylometaphyseal dysplasia corner fracture type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type | ClinVar | PMID:25741868 and PMID:28492532 | |