Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute myeloid leukemia | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar | | adenoid cystic carcinoma | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenoid cystic carcinoma | ClinVar | | anterior segment dysgenesis 8 | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anterior segment dysgenesis 8 | ClinVar | PMID:25741868 | autistic disorder | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | cataract | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cataract | ClinVar | PMID:24728327 more ... | cerebellar hypoplasia | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:25741868 | coronin-1A deficiency | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 8 | ClinVar | PMID:24728327 more ... | genetic disease | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24728327 more ... | intellectual disability | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | Neurodevelopmental Disorders | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | ornithine carbamoyltransferase deficiency | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency | ClinVar | PMID:11793468 more ... | syndromic microphthalmia 1 | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microphthalmia and syndromic 1 | ClinVar | PMID:24728327 more ... | syndromic microphthalmia 2 | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15004558 more ... | syndromic X-linked intellectual disability Hedera type | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type | ClinVar | PMID:23901204 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Najm type | | ISO | BCOR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability more ... | ClinVar | PMID:23901204 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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