Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CTNNA1 | Green Monkey | autosomal dominant intellectual developmental disorder 31 | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY more ... | ClinVar | PMID:28492532 | CTNNA1 | Green Monkey | colorectal cancer | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar | PMID:28492532 | CTNNA1 | Green Monkey | colorectal cancer | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 more ... | CTNNA1 | Green Monkey | congenital fibrosis of the extraocular muscles | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar | PMID:25741868 | CTNNA1 | Green Monkey | Craniosynostosis Syndrome, Autosomal Recessive | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:31292255 | CTNNA1 | Green Monkey | familial adenomatous polyposis 1 | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | CTNNA1 | Green Monkey | fundus dystrophy | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:25741868 more ... | CTNNA1 | Green Monkey | hereditary breast ovarian cancer syndrome | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 | CTNNA1 | Green Monkey | hereditary diffuse gastric cancer | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME | ClinVar | PMID:16199547 more ... | CTNNA1 | Green Monkey | hereditary mixed polyposis syndrome 1 | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polyposis syndrome more ... | ClinVar | PMID:28492532 more ... | CTNNA1 | Green Monkey | Hereditary Neoplastic Syndromes | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | CTNNA1 | Green Monkey | Hereditary Neoplastic Syndromes | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | CTNNA1 | Green Monkey | Hereditary Neoplastic Syndromes | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | CTNNA1 | Green Monkey | Hereditary Neoplastic Syndromes | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | CTNNA1 | Green Monkey | Hereditary Neoplastic Syndromes | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | CTNNA1 | Green Monkey | Neurodevelopmental Disorders | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | CTNNA1 | Green Monkey | patterned macular dystrophy 2 | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | CTNNA1 | Green Monkey | schizophrenia | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | | CTNNA1 | Green Monkey | STING-associated vasculopathy with onset in infancy | | ISO | CTNNA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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