Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Acroosteolysis Dominant Type | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:24728327 more ... | Alagille syndrome | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16773578 more ... | ALAGILLE SYNDROME 2 | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:16773578 more ... | CAKUT | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Hajdu-Cheney syndrome | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | hereditary breast ovarian cancer syndrome | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 | Hirschsprung Disease 1 | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease 1 | ClinVar | PMID:24728327 more ... | Hirschsprung's disease | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:24728327 more ... | keratoacanthoma | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratoacanthoma | ClinVar | PMID:27283355 | Monoclonal B-Cell Lymphocytosis | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis | ClinVar | PMID:21378985 more ... | PHGDH deficiency | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PHGDH deficiency | ClinVar | PMID:28492532 | primary ovarian insufficiency | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature ovarian failure | ClinVar | PMID:25741868 and PMID:28492532 | VACTERL association | | ISO | NOTCH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: VATER association | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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