Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arthrogryposis multiplex congenita-3 | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3 and myogenic type | ClinVar | PMID:25741868 and PMID:27782104 | autosomal dominant Emery-Dreifuss muscular dystrophy 4 | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | autosomal recessive spinocerebellar ataxia 8 | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Breast Cancer, Familial | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial cancer of breast | ClinVar | PMID:10945602 more ... | Breast Neoplasms | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast neoplasm | ClinVar | PMID:24185510 more ... | cerebellar ataxia | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | | chromosome 6q24-q25 deletion syndrome | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome | ClinVar | PMID:25741868 and PMID:38177409 | Emery-Dreifuss muscular dystrophy | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | | Estrogen Resistance | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15133719 more ... | genetic disease | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | migraine | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Migraine with or without aura and susceptibility to | ClinVar | PMID:15133719 and PMID:25741868 | myocardial infarction | | ISO | ESR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myocardial infarction and susceptibility to | ClinVar | PMID:11894143 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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