Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Auditory Neuropathy | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | breast ductal carcinoma | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ductal breast carcinoma | ClinVar | | CADASIL | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227618 more ... | CADASIL 1 | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227618 more ... | CADASIL2 | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 | ClinVar | PMID:28492532 | cerebral cavernous malformation | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar | PMID:25741868 and PMID:28492532 | cerebral infarction | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ischemic stroke | ClinVar | PMID:10371548 more ... | depressive disorder | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Depression | ClinVar | PMID:15364702 more ... | epilepsy | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | genetic disease | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:14714274 more ... | Infantile Myofibromatosis 1 | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myofibromatosis more ... | ClinVar | PMID:23731542 | Infantile Myofibromatosis 2 | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myofibromatosis more ... | ClinVar | PMID:11102981 more ... | invasive ductal carcinoma | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast cancer and invasive ductal | ClinVar | | lateral meningocele syndrome | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11102981 more ... | migraine | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Migraine | ClinVar | PMID:25741868 | migraine with aura | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Migraine with aura | ClinVar | PMID:32581362 | migraine without aura | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Migraine without aura | ClinVar | PMID:12754354 more ... | Primary Pulmonary Hypertension, 1 | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar | PMID:22006983 more ... | Progressive Psychomotor Deterioration | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive psychomotor deterioration | ClinVar | PMID:32581362 | prostate cancer | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:15364702 more ... | Pulmonary Arterial Hypertension | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar | PMID:22006983 more ... | Stroke | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stroke | ClinVar | PMID:12754354 more ... | vascular dementia | | ISO | NOTCH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | PMID:14714274 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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