Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | atypical chronic myeloid leukemia | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atypical chronic myeloid leukemia and BCR-ABL1 negative | ClinVar | | autism spectrum disorder | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 and PMID:30504930 | Bohring Syndrome | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bohring-Opitz syndrome | ClinVar | PMID:16412590 more ... | Developmental Disabilities | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21706002 more ... | epilepsy | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16412590 more ... | hypertrichosis | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrichosis | ClinVar | PMID:21706002 and PMID:25741868 | immunodeficiency-centromeric instability-facial anomalies syndrome 1 | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Centromeric instability of chromosomes 1 and 9 and 16 and immunodeficiency | ClinVar | PMID:28492532 | intellectual disability | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:24728327 more ... | juvenile myelomonocytic leukemia | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia | ClinVar | PMID:25741868 more ... | microcephaly | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | myelodysplastic syndrome | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Neurodevelopmental Disorders | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | | Rubinstein Taybi like Syndrome | | ISO | ASXL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rubinstein Taybi like syndrome | ClinVar | PMID:16412590 and PMID:30806792 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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