Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cbl | Squirrel | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy | ClinVar | PMID:24033266 more ... | Cbl | Squirrel | CD3epsilon deficiency | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CD3epsilon deficiency | ClinVar | PMID:28492532 | Cbl | Squirrel | chromosome 11 partial duplication syndrome | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | Cbl | Squirrel | congenital disorder of glycosylation Ij | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J | ClinVar | PMID:22742743 and PMID:28492532 | Cbl | Squirrel | congenital myasthenic syndrome 13 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:22742743 and PMID:28492532 | Cbl | Squirrel | Developmental Disabilities | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | Cbl | Squirrel | Dilated Cardiomyopathy with Left Ventricular Noncompaction | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy | ClinVar | PMID:25741868 more ... | Cbl | Squirrel | Dwarfism | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | Cbl | Squirrel | Familial Atrial Fibrillation 14 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial fibrillation more ... | ClinVar | PMID:28492532 | Cbl | Squirrel | genetic disease | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18698078 more ... | Cbl | Squirrel | hematologic cancer | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hematological malignancies | ClinVar | PMID:19571318 more ... | Cbl | Squirrel | Hematologic Neoplasms | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hematologic neoplasm | ClinVar | PMID:19571318 more ... | Cbl | Squirrel | Hereditary Neoplastic Syndromes | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 | Cbl | Squirrel | immunodeficiency 17 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 17 and CD3 gamma deficient | ClinVar | PMID:28492532 | Cbl | Squirrel | immunodeficiency 18 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar | PMID:28492532 | Cbl | Squirrel | immunodeficiency 19 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 19 | ClinVar | PMID:28492532 | Cbl | Squirrel | inflammatory bowel disease 28 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inflammatory bowel disease 28 | ClinVar | PMID:28492532 | Cbl | Squirrel | isolated microphthalmia 5 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar | PMID:28492532 | Cbl | Squirrel | juvenile amyotrophic lateral sclerosis 2 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar | | Cbl | Squirrel | juvenile myelomonocytic leukemia | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia | ClinVar | PMID:16199547 more ... | Cbl | Squirrel | long QT syndrome 10 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome 10 | ClinVar | PMID:28492532 | Cbl | Squirrel | malignant ovarian germ cell neoplasm | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant germ cell tumor of ovary | ClinVar | PMID:16199547 more ... | Cbl | Squirrel | microcephaly | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Cbl | Squirrel | myeloid neoplasm | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myeloproliferative disorder | ClinVar | PMID:17446348 more ... | Cbl | Squirrel | Neurodevelopmental Disorders | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:20543203 more ... | Cbl | Squirrel | Noonan Like Syndrome | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan-like syndrome | ClinVar | PMID:19620960 more ... | Cbl | Squirrel | Noonan syndrome | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Cbl | Squirrel | Noonan syndrome 1 | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar | PMID:20543203 more ... | Cbl | Squirrel | Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Cbl | Squirrel | ovarian germ cell cancer | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian germ cell cancer | ClinVar | PMID:16199547 more ... | Cbl | Squirrel | RASopathy | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14640702 more ... | Cbl | Squirrel | RASopathy | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14640702 more ... | Cbl | Squirrel | RASopathy | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:17446348 more ... | Cbl | Squirrel | RASopathy | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:14640702 more ... | Cbl | Squirrel | RASopathy | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:14640702 more ... | Cbl | Squirrel | rhabdomyosarcoma | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rhabdomyosarcoma | ClinVar | PMID:17446348 more ... | Cbl | Squirrel | schizophrenia | | ISO | CBL (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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