Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant isolated ectopia lentis 1 | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ectopia lentis 1 more ... | ClinVar | PMID:23218701 more ... | buphthalmos | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glaucoma 3 more ... | ClinVar | PMID:19656777 | exfoliation syndrome | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pseudoexfoliation glaucoma | ClinVar | PMID:23401661 more ... | genetic disease | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Glaucoma 3, Primary Infantile, B | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glaucoma 3 more ... | ClinVar | PMID:16199547 more ... | intellectual disability | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and mild | ClinVar | | juvenile glaucoma | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar | PMID:19361779 more ... | Marfan syndrome | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfan syndrome | ClinVar | | Microspherophakia | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microspherophakia | ClinVar | PMID:19361779 more ... | Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microspherophakia and/or megalocornea and with ectopia lentis and with or without secondary glaucoma | ClinVar | PMID:19361779 more ... | primary congenital glaucoma | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary congenital glaucoma | ClinVar | PMID:25741868 | Primary Congenital Glaucoma 3, D | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | primary open angle glaucoma | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary open angle glaucoma | ClinVar | PMID:23401661 more ... | Weill-Marchesani syndrome | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weill-Marchesani syndrome | ClinVar | PMID:17576681 more ... | Weill-Marchesani Syndrome 1 | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 | ClinVar | PMID:22539340 | Weill-Marchesani Syndrome 3 | | ISO | LTBP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 | ClinVar | PMID:22539340 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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