Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Anosmia | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anosmia | ClinVar | PMID:28067909 more ... | Arhinia, Choanal Atresia, and Microphthalmia | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arhinia more ... | ClinVar | PMID:11321738 more ... | chromosome 18p deletion syndrome | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Del(18p) syndrome | ClinVar | PMID:31690835 | cryptorchidism | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cryptorchidism | ClinVar | PMID:25741868 and PMID:28067909 | facioscapulohumeral muscular dystrophy 2 | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | genetic disease | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23143600 more ... | hypertrophic cardiomyopathy | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:28492532 | intellectual disability | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | Majeed Syndrome | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Majeed syndrome | ClinVar | PMID:15994876 more ... | Muscle Weakness | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscle weakness | ClinVar | PMID:23143600 and PMID:28492532 | muscular dystrophy | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | | myofibrillar myopathy 1 | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs | ClinVar | | Olfaction Disorders | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anosmia | ClinVar | PMID:28067909 more ... | Scapulohumeral Muscular Dystrophy | | ISO | SMCHD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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