Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenylosuccinase lyase deficiency | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency | ClinVar | PMID:28492532 | Agenesis of Corpus Callosum | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Corpus callosum and agenesis of | ClinVar | PMID:25741868 | autosomal dominant cerebellar ataxia | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia | ClinVar | PMID:28492532 and PMID:35401678 | CHARGE syndrome | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hall-Hittner syndrome | ClinVar | PMID:29300383 | colon carcinoma | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10700188 | colorectal cancer | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15706485 more ... | colorectal cancer | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15706485 more ... | colorectal cancer | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15706485 more ... | colorectal cancer | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15706485 more ... | colorectal carcinoma | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal carcinoma | ClinVar | PMID:15706485 more ... | common variable immunodeficiency 4 | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency more ... | ClinVar | PMID:28492532 | Dwarfism | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:25741868 | esophageal carcinoma | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar | PMID:26619011 | genetic disease | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11331617 more ... | head and neck squamous cell carcinoma | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar | PMID:26619011 | hepatoblastoma | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:25741868 | hereditary breast ovarian cancer syndrome | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 | Hittner Hirsch Kreh Syndrome | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:29300383 | intellectual disability | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24728327 more ... | lung squamous cell carcinoma | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell lung carcinoma | ClinVar | PMID:26619011 | medulloblastoma | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Medulloblastoma | ClinVar | PMID:26619011 | Menke-Hennekam Syndrome 2 | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Menke-Hennekam syndrome 2 | ClinVar | PMID:18414213 more ... | microcephaly | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Multicystic Dysplastic Kidney | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multicystic dysplastic kidney | ClinVar | PMID:25741868 more ... | Multiple Abnormalities | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple congenital anomalies | ClinVar | PMID:18792986 more ... | nephronophthisis-like nephropathy 1 | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 | ClinVar | PMID:28492532 | Neurodevelopmental Disorders | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Rubinstein-Taybi syndrome | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10700188 more ... | Rubinstein-Taybi syndrome | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10700188 more ... | Rubinstein-Taybi syndrome | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10700188 more ... | Spinocerebellar Ataxias | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinocerebellar Ataxia and Dominant | ClinVar | PMID:28492532 and PMID:35401678 | Thumb Deformity | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thumb deformity | ClinVar | PMID:25741868 | transitional cell carcinoma | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder | ClinVar | PMID:26619011 | Uterine Cervical Neoplasms | | ISO | EP300 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar | PMID:26619011 | |