Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant intellectual developmental disorder 5 | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and autosomal dominant 5 | ClinVar | PMID:28492532 | autosomal dominant nonsyndromic deafness 13 | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal dominant 13 | ClinVar | PMID:10581026 more ... | autosomal recessive nonsyndromic deafness 53 | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal recessive 53 | ClinVar | PMID:10677296 more ... | congenital heart disease | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10677296 more ... | connective tissue disease | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15922184 more ... | connective tissue disease | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:15922184 more ... | cystic lymphangioma | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cystic hygroma | ClinVar | PMID:10677296 more ... | Down syndrome | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complete trisomy 21 syndrome | ClinVar | PMID:28492532 and PMID:30311386 | fibrochondrogenesis 1 | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fibrochondrogenesis 1 | ClinVar | PMID:24033266 more ... | fibrochondrogenesis 2 | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fibrochondrogenesis 2 | ClinVar | PMID:10677296 more ... | fundus dystrophy | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:28492532 | genetic disease | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24033266 more ... | Hearing Loss | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:16033917 more ... | infantile hypophosphatasia | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infantile hypophosphatasia | ClinVar | PMID:28492532 | intellectual disability | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | Larsen-like syndrome B3GAT3 type | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Larsen-like syndrome and B3GAT3 type | ClinVar | PMID:25741868 and PMID:28492532 | Macrocephaly | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macrocephaly | ClinVar | PMID:24033266 and PMID:28492532 | nonsyndromic deafness | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar | PMID:25633957 and PMID:28492532 | Nonsyndromic Sensorineural Hearing Loss | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Dominant | ClinVar | PMID:24033266 and PMID:28492532 | otospondylomegaepiphyseal dysplasia, autosomal dominant | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10677296 more ... | otospondylomegaepiphyseal dysplasia, autosomal recessive | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10677296 more ... | proteasome-associated autoinflammatory syndrome 1 | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | sensorineural hearing loss | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sensorineural hearing loss disorder | ClinVar | PMID:25741868 | Stickler syndrome | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stickler Syndrome and Dominant | ClinVar | PMID:15922184 more ... | Weissenbacher-Zweymuller syndrome | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10677296 more ... | Weissenbacher-Zweymuller syndrome | | ISO | COL11A2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10677296 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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Imported Disease Annotations - OMIM
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