Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Acute Lymphoblastic Leukemia, with Lymphomatous Features | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: LYMPHOMATOUS ALL | ClinVar | PMID:10982185 more ... | acute megakaryocytic leukemia | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982185 more ... | adenoid cystic carcinoma | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar | PMID:14615376 more ... | adenosine deaminase deficiency | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10900158 more ... | genetic disease | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hereditary spastic paraplegia | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | | Hydrops Fetalis | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal edema | ClinVar | PMID:25741868 and PMID:28492532 | Leukemoid Reaction | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leukemoid reaction | ClinVar | PMID:18397343 more ... | long QT syndrome | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:24728327 more ... | lymphopenia | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphopenia | ClinVar | PMID:25741868 and PMID:28492532 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | ClinVar | PMID:28492532 | Muscle Hypotonia | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal hypotonia | ClinVar | PMID:25741868 and PMID:28492532 | myeloproliferative neoplasm | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myeloproliferative neoplasm | ClinVar | PMID:16843266 more ... | NATURAL KILLER CELL ENTEROPATHY | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NK-cell enteropathy | ClinVar | | severe combined immunodeficiency | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10900158 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10900158 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10900158 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10900158 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10900158 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10900158 more ... | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10900158 more ... | Trichiasis | | ISO | JAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Trichiasis | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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