Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive congenital ichthyosis | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11398099 more ... | autosomal recessive congenital ichthyosis 2 | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 | ClinVar | PMID:16116617 more ... | autosomal recessive congenital ichthyosis 3 | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 | ClinVar | PMID:11398099 more ... | common variable immunodeficiency | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar | PMID:28492532 | cone-rod dystrophy 6 | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar | PMID:28492532 | craniosynostosis | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachycephaly | ClinVar | PMID:25741868 | Diamond-Blackfan anemia | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:20522432 more ... | Dwarfism | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disproportionate short stature | ClinVar | PMID:25741868 | dyskeratosis congenita | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:20522432 more ... | genetic disease | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | hypophosphatemia | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypophosphatemia | ClinVar | PMID:25741868 | ichthyosis | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ichthyosis | ClinVar | PMID:24824130 more ... | intellectual disability | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: intellectual disabilities | ClinVar | PMID:25741868 | Li-Fraumeni syndrome | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar | PMID:20522432 more ... | microcephaly | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive microcephaly | ClinVar | PMID:25741868 | mitral valve insufficiency | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitral regurgitation | ClinVar | PMID:25741868 | osteochondrodysplasia | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Skeletal dysplasia | ClinVar | PMID:25741868 | scoliosis | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Scoliosis | ClinVar | PMID:25741868 | Sprengel Deformity | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sprengel's shoulder | ClinVar | PMID:25741868 | very long chain acyl-CoA dehydrogenase deficiency | | ISO | ALOXE3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency | ClinVar | PMID:11590124 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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