Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | alkaptonuria | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alkaptonuria | ClinVar | PMID:12501223 more ... | autosomal dominant hypocalcemia | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant hypocalcemia | ClinVar | PMID:11136551 more ... | autosomal dominant hypocalcemia 1 | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10023897 more ... | Autosomal Dominant Hypocalcemia, with Bartter Syndrome | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypocalcemia more ... | ClinVar | PMID:11152759 more ... | Bartter disease type 3 | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bartter disease type 3 | ClinVar | PMID:28492532 | breast cancer | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar | PMID:10023897 more ... | Developmental Disabilities | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 and PMID:28492532 | familial hypocalciuric hypercalcemia | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10023897 more ... | familial hypocalciuric hypercalcemia | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:8878438 more ... | familial hypocalciuric hypercalcemia 1 | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10023897 more ... | familial isolated hypoparathyroidism | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial isolated hypoparathyroidism | ClinVar | PMID:10023897 more ... | genetic disease | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10023897 more ... | Gitelman syndrome | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia | ClinVar | | Hereditary Neoplastic Syndromes | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11807402 more ... | hypercalcemia | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypercalcemia | ClinVar | PMID:15591042 more ... | Hyperparathyroidism, Neonatal Severe Primary | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10023897 more ... | hypertrophic cardiomyopathy | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:15591042 more ... | Hypocalcemia | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypocalcemia | ClinVar | PMID:25741868 and PMID:28492532 | idiopathic generalized epilepsy | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:25741868 and PMID:28492532 | idiopathic generalized epilepsy 8 | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10770217 more ... | Neurodevelopmental Disorders | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | parathyroid adenoma | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid adenoma | ClinVar | PMID:15591042 more ... | primary hyperparathyroidism | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar | PMID:10023897 more ... | Primary Lymphedema with Myelodysplasia | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphedema more ... | ClinVar | PMID:19449416 more ... | prostate cancer | | ISO | CASR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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