Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aicardi-Goutieres Syndrome 3 | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar | PMID:28492532 | Bardet-Biedl syndrome | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bardet-Biedl syndrome | ClinVar | PMID:10564830 more ... | Bardet-Biedl syndrome 1 | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10564830 more ... | congenital muscular dystrophy-dystroglycanopathy type A13 | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | ClinVar | PMID:22219654 and PMID:28492532 | fundus dystrophy | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:12118255 more ... | genetic disease | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12118255 more ... | glycogen storage disease V | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease and type V | ClinVar | PMID:12118255 more ... | intellectual disability | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infections more ... | ClinVar | PMID:28492532 | retinitis pigmentosa | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:12118255 more ... | Usher syndrome | | ISO | BBS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Usher syndrome | ClinVar | PMID:12118255 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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