Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Adams-Oliver Syndrome 5 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar | PMID:16025100 more ... | autosomal dominant intellectual developmental disorder 8 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:28492532 | autosomal dominant nocturnal frontal lobe epilepsy 5 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar | PMID:28492532 | congenital generalized lipodystrophy | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital generalized lipodystrophy | ClinVar | PMID:11967537 more ... | congenital generalized lipodystrophy type 1 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 | ClinVar | PMID:11967537 more ... | congenital generalized lipodystrophy type 4 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: BRUNZELL SYNDROME and AGPAT2-RELATED | ClinVar | PMID:11967537 more ... | developmental and epileptic encephalopathy 14 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19264732 more ... | developmental and epileptic encephalopathy 14 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16025100 more ... | diabetes mellitus | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monogenic diabetes | ClinVar | PMID:11967537 more ... | epilepsy | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | genetic disease | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Joubert syndrome 1 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:16025100 more ... | Kleefstra syndrome 1 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:19264732 more ... | Leigh disease | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 | primary coenzyme Q10 deficiency 7 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | prostate cancer | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | Rafiq syndrome | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:24566669 more ... | tuberous sclerosis 1 | | ISO | AGPAT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 1 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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