Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenoid cystic carcinoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar | PMID:21390126 more ... | Agenesis of Corpus Callosum | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Corpus callosum agenesis | ClinVar | PMID:12070251 more ... | atrial heart septal defect | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial septal defect | ClinVar | PMID:25741868 more ... | Au-Kline Syndrome | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kabuki-like syndrome | ClinVar | PMID:25741868 | Colorectal Neoplasms | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal Neoplasms | ClinVar | PMID:21390126 more ... | Developmental Disabilities | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 and PMID:28492532 | diffuse large B-cell lymphoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diffuse large B cell lymphoma | ClinVar | PMID:24755471 more ... | epilepsy | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | gastric adenocarcinoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar | PMID:21390126 more ... | genetic disease | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11023789 more ... | glaucoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glaucoma | ClinVar | PMID:25741868 | glioblastoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glioblastoma | ClinVar | PMID:21390126 more ... | head and neck squamous cell carcinoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar | PMID:21390126 more ... | hepatocellular carcinoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21390126 more ... | Hirschsprung Disease 1 | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease 1 | ClinVar | PMID:25741868 and PMID:28492532 | Hirschsprung's disease | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:25741868 and PMID:28492532 | idiopathic generalized epilepsy | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | intellectual disability | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12566391 more ... | Kohlschutter-Tonz syndrome | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:28492532 | lung squamous cell carcinoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell lung carcinoma | ClinVar | PMID:21390126 more ... | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | medulloblastoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar | PMID:21390126 more ... | melanoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant melanoma and somatic | ClinVar | PMID:21390126 more ... | Menke-Hennekam Syndrome | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Menke-Hennekam syndrome | ClinVar | PMID:25741868 more ... | Menke-Hennekam Syndrome 1 | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 | ClinVar | PMID:11023789 more ... | multiple myeloma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple myeloma | ClinVar | | Nervous System Malformations | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:12566391 more ... | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the cerebrum | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | Rubinstein-Taybi syndrome | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11331617 more ... | Rubinstein-Taybi syndrome | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11331617 more ... | Rubinstein-Taybi syndrome | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11331617 more ... | scoliosis | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Scoliosis | ClinVar | | short-rib thoracic dysplasia 9 with or without polydactyly | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar | PMID:28492532 | skin melanoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar | PMID:21390126 more ... | teratoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Teratoma | ClinVar | | Thumb Deformity | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thumb deformity | ClinVar | PMID:25741868 | transitional cell carcinoma | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder | ClinVar | PMID:21390126 more ... | Uterine Cervical Neoplasms | | ISO | CREBBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21390126 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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