Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenocortical carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | Aggressive Fibromatosis | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aggressive fibromatosis | ClinVar | PMID:10398436 more ... | Alazami Syndrome | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alazami syndrome | ClinVar | PMID:23033978 more ... | autosomal dominant intellectual developmental disorder 19 | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10966653 more ... | Brain Neoplasms | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25157968 more ... | colon carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10192393 more ... | colorectal cancer | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23033978 more ... | colorectal cancer | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23033978 more ... | colorectal cancer | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23033978 more ... | Colorectal Neoplasms | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal Neoplasms | ClinVar | PMID:10027390 more ... | congenital muscular dystrophy-dystroglycanopathy type A8 | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a and 8 | ClinVar | PMID:28492532 | craniopharyngioma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniopharyngioma | ClinVar | PMID:10192393 more ... | desmoid tumor | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Desmoid tumor | ClinVar | PMID:10398436 more ... | Developmental Disabilities | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:23033978 more ... | Developmental Disease | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:23033978 more ... | disease | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disease | ClinVar | PMID:10027390 more ... | disease of cellular proliferation | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neoplasm | ClinVar | PMID:25157968 | Endometrial Intraepithelial Neoplasia | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atypical endometrial hyperplasia | ClinVar | PMID:10398436 more ... | Endometrial Neoplasms | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Endometrial neoplasm | ClinVar | PMID:10192393 more ... | esophageal carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | esophagus squamous cell carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Esophageal squamous cell carcinoma | ClinVar | PMID:25157968 more ... | exudative vitreoretinopathy 1 | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 and PMID:28575650 | exudative vitreoretinopathy 7 | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23033978 more ... | gallbladder cancer | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gallbladder cancer | ClinVar | PMID:10027390 more ... | gastric adenocarcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | genetic disease | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:21903672 more ... | head and neck squamous cell carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar | PMID:10192393 more ... | hepatoblastoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:10192393 more ... | hepatocellular carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | hepatocellular carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | hereditary desmoid disease | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar | PMID:10398436 more ... | imperforate anus | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Imperforate anus | ClinVar | PMID:25741868 | intellectual disability | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23033978 more ... | lung adenocarcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | medulloblastoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | melanoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | nephroblastoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephroblastoma | ClinVar | PMID:10027390 more ... | Nervous System Malformations | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:23033978 more ... | Ovarian Neoplasms | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar | PMID:10027390 more ... | pancreatic adenocarcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pancreatic adenocarcinoma | ClinVar | PMID:10192393 more ... | Parathyroid Neoplasms | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid gland neoplasm | ClinVar | PMID:25157968 more ... | pilomatrixoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | polycystic liver disease | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cystic disease of liver | ClinVar | PMID:28492532 | Polycystic Liver Disease 1 | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar | PMID:28492532 | prostate adenocarcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | prostate cancer | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 more ... | renal cell carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar | PMID:26822237 | Renal Cell Carcinoma 1 | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Renal cell carcinoma 1 | ClinVar | PMID:26822237 | skin melanoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | Stomach Neoplasms | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neoplasm of stomach | ClinVar | PMID:10027390 more ... | transitional cell carcinoma | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder | ClinVar | PMID:10027390 more ... | urinary bladder cancer | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10192393 more ... | Urinary Bladder Neoplasm | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Urinary Bladder Neoplasms | ClinVar | PMID:10192393 more ... | uterine cancer | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant neoplasm of body of uterus | ClinVar | PMID:10027390 more ... | Uterine Cervical Neoplasms | | ISO | CTNNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10027390 more ... | |