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 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||||
Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
