Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | delta beta-thalassemia | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thalassemia and gamma-delta-beta | ClinVar | PMID:2798417 | developmental and epileptic encephalopathy | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:28492532 | dystonia | | ISO | TH (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10407773 more ... | dystonia | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonic disorder | ClinVar | PMID:10407773 more ... | dystonia 5 | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 5 | ClinVar | PMID:18554280 more ... | early infantile epileptic encephalopathy | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:28492532 | generalized dystonia | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized dystonia | ClinVar | PMID:22572540 more ... | genetic disease | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11246459 more ... | Hyperproinsulinemia | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperproinsulinemia | ClinVar | PMID:25741868 and PMID:33953728 | Hypoinsulinemia | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypoinsulinemia | ClinVar | PMID:12610512 more ... | immunodeficiency 39 | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 39 | ClinVar | PMID:28492532 | maturity-onset diabetes of the young | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young | ClinVar | PMID:11921414 more ... | maturity-onset diabetes of the young type 1 | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar | PMID:25741868 more ... | maturity-onset diabetes of the young type 10 | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 | ClinVar | PMID:11921414 more ... | neonatal diabetes | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal diabetes mellitus | ClinVar | PMID:25741868 and PMID:27635400 | neuronal ceroid lipofuscinosis | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar | PMID:28492532 | Permanent Neonatal Diabetes Mellitus 4 | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diabetes mellitus and permanent neonatal 4 | ClinVar | PMID:25741868 more ... | schizophrenia | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:20301610 more ... | Segawa Syndrome, Autosomal Recessive | | ISO | TH (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10407773 more ... | transient neonatal diabetes mellitus | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Transient Neonatal Diabetes and Dominant/Recessive | ClinVar | PMID:11921414 more ... | type 1 diabetes mellitus | | ISO | TH (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11921414 more ... | type 1 diabetes mellitus 2 | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 | ClinVar | PMID:18162506 more ... | type 2 diabetes mellitus | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar | PMID:25741868 more ... | Type 2 Diabetes Mellitus 1 | | ISO | TH (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 | ClinVar | PMID:18162506 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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