Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TJP2 | Green Monkey | autosomal dominant nonsyndromic deafness 51 | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20602916 more ... | TJP2 | Green Monkey | branchiootorenal syndrome | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Melnick-Fraser syndrome | ClinVar | PMID:25741868 and PMID:30311386 | TJP2 | Green Monkey | Familial Hypercholanemia 1 | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12704386 more ... | TJP2 | Green Monkey | Familial Primary Biliary Cirrhosis | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial primary biliary cirrhosis | ClinVar | PMID:25741868 more ... | TJP2 | Green Monkey | genetic disease | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10601346 more ... | TJP2 | Green Monkey | Hearing Loss | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:25741868 and PMID:30311386 | TJP2 | Green Monkey | Nonsyndromic Sensorineural Hearing Loss | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Dominant | ClinVar | PMID:24033266 more ... | TJP2 | Green Monkey | primary biliary cholangitis | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary biliary cirrhosis | ClinVar | PMID:25741868 more ... | TJP2 | Green Monkey | progressive familial intrahepatic cholestasis 4 | | ISO | TJP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cholestasis more ... | ClinVar | PMID:24033266 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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