Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenocortical carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenocortical carcinoma | ClinVar | PMID:12068308 more ... | Aortic Aneurysm, Giant Congenital | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm and giant congenital | ClinVar | PMID:16372351 more ... | arteriovenous malformations of the brain | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | ataxia telangiectasia | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16439621 more ... | B-Cell Chronic Lymphocytic Leukemia | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | Brain Neoplasms | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brain Neoplasms | ClinVar | PMID:12068308 more ... | Breast Neoplasms | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar | PMID:12068308 more ... | cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cancer | ClinVar | PMID:12068308 more ... | cardiofaciocutaneous syndrome | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11313766 more ... | cardiofaciocutaneous syndrome 1 | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 | ClinVar | PMID:11313766 more ... | cardiomyopathy | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiomyopathies | ClinVar | PMID:24033266 more ... | chronic lymphocytic leukemia | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic lymphatic leukemia | ClinVar | PMID:12068308 more ... | chronic myelogenous leukemia, BCR-ABL1 positive | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic myelogenous leukemia and BCR-ABL1 positive | ClinVar | PMID:24033266 more ... | chronic myeloid leukemia | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic myelogenous leukemia | ClinVar | PMID:24033266 more ... | colon carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | Colonic Neoplasms | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colonic Neoplasms | ClinVar | PMID:12068308 more ... | colorectal cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | colorectal cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | colorectal cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | colorectal cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | Colorectal Neoplasms | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal Neoplasms | ClinVar | PMID:12068308 more ... | Costello syndrome | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Costello syndrome | ClinVar | PMID:28492532 | Dandy-Walker syndrome | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dandy-Walker malformation | ClinVar | PMID:16372351 more ... | Developmental Disabilities | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | diffuse large B-cell lymphoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diffuse large B cell lymphoma | ClinVar | | dilated cardiomyopathy | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:25741868 and PMID:28492532 | disease of cellular proliferation | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | dysplastic nevus syndrome | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: B-K MOLE SYNDROME | ClinVar | PMID:16439621 more ... | endometrial carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar | PMID:28492532 | familial melanoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Melanoma more ... | ClinVar | PMID:16439621 more ... | Follicular Thyroid Cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thyroid cancer more ... | ClinVar | PMID:12068308 more ... | gallbladder cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gallbladder cancer | ClinVar | | ganglioglioma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Childhood ganglioglioma | ClinVar | PMID:19363522 more ... | gastric adenocarcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar | PMID:12068308 more ... | gastric adenocarcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar | PMID:12068308 more ... | gastrointestinal stromal tumor | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar | PMID:12068308 more ... | gastrointestinal stromal tumor | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar | PMID:12068308 more ... | genetic disease | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15035987 more ... | glioblastoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glioblastoma | ClinVar | PMID:12068308 more ... | head and neck squamous cell carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | high grade glioma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brainstem glioma | ClinVar | PMID:12068308 more ... | hypertrophic cardiomyopathy | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:25741868 and PMID:28492532 | hypertrophic cardiomyopathy 4 | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar | PMID:25741868 | intellectual disability | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | lung adenocarcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | lung adenocarcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | lung cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung cancer and somatic | ClinVar | PMID:16439621 more ... | lung carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung carcinoma | ClinVar | PMID:11313766 more ... | lung non-small cell carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | lung squamous cell carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell lung carcinoma | ClinVar | PMID:12068308 more ... | lymphangioma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphangioma | ClinVar | PMID:12068308 more ... | melanoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11727201 more ... | multiple myeloma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | myoepithelioma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myoepithelial tumor | ClinVar | PMID:15016963 more ... | nephroblastoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar | PMID:12068308 more ... | newborn respiratory distress syndrome | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal respiratory distress | ClinVar | PMID:16439621 more ... | non-Hodgkin lymphoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | Nonseminomatous Germ Cell Tumor | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Germ cell tumor and nonseminomatous | ClinVar | PMID:12068308 more ... | Noonan syndrome | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11313766 more ... | Noonan syndrome | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11313766 more ... | Noonan syndrome 1 | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar | PMID:11313766 more ... | Noonan syndrome 7 | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 7 | ClinVar | PMID:11313766 more ... | Noonan syndrome with multiple lentigines | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines | ClinVar | PMID:17704260 more ... | Noonan syndrome with multiple lentigines 3 | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: LEOPARD syndrome 3 | ClinVar | PMID:11313766 more ... | Ovarian Neoplasms | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar | PMID:12068308 more ... | ovarian serous cystadenocarcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma | ClinVar | PMID:24033266 more ... | papillary renal cell carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | papillary renal cell carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Papillary renal cell carcinoma and sporadic | ClinVar | PMID:12068308 more ... | Paraproteinemias | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma cell dyscrasia | ClinVar | PMID:12068308 more ... | PHACE Association | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PHACES association | ClinVar | PMID:16372351 more ... | plasma cell neoplasm | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma cell dyscrasia | ClinVar | PMID:12068308 more ... | pleomorphic xanthoastrocytoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma | ClinVar | PMID:28299358 | Premature Birth | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature birth | ClinVar | PMID:16439621 more ... | prostate adenocarcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | Prostate Cancer, Hereditary, 1 | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Prostate cancer more ... | ClinVar | PMID:11727201 more ... | pulmonary valve stenosis | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonic stenosis | ClinVar | PMID:16439621 more ... | RASopathy | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11313766 more ... | skin melanoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | skin melanoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12068308 more ... | Sporadic Papillary Renal Cell Carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Papillary renal cell carcinoma and sporadic | ClinVar | PMID:12068308 more ... | tethered spinal cord syndrome | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Occult spinal dysraphism sequence | ClinVar | PMID:16372351 more ... | thyroid gland papillary carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NONMEDULLARY THYROID CARCINOMA and PAPILLARY | ClinVar | PMID:12068308 more ... | Thyroid Neoplasms | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neoplasm of the thyroid gland | ClinVar | PMID:12068308 more ... | transitional cell carcinoma | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder | ClinVar | PMID:12068308 more ... | uterine cancer | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant neoplasm of body of uterus | ClinVar | PMID:12068308 more ... | Vascular Malformations | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular malformation | ClinVar | PMID:12068308 more ... | ventricular septal defect | | ISO | BRAF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular septal defect | ClinVar | PMID:16439621 more ... | |