564
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B-Raf proto-oncogene, serine/threonine kinase |
B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1 |
Curated: Alzheimer disease, Ameloblastoma, Anaplastic astrocytoma, Anorexia nervosa, Cerebral arteriovenous malformations, Astrocytoma, Ataxia telangiectasia, Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Carcinogenesis, Hepatocellular carcinoma, Cardiofaciocutaneous syndrome, Dilated cardiomyopathy, Hairy cell leukemia, Colorectal cancer, Colorectal neoplasms, Congenital malformation syndromes associated with short stature, Costello syndrome, Craniopharyngioma, Cushing syndrome, Dandy-walker syndrome, Dementia, Desbuquois syndrome, Diabetes mellitus type 2, Differentiated thyroid carcinoma, Hyperthyroidism, Long qt syndrome, Glioma, Global developmental delay, Gout, Hypertrophic cardiomyopathy, Intellectual developmental disorder, Kidney neoplasms, Leopard syndrome, Liver neoplasms, Lung cancer, Lung neoplasms, Lymphatic metastasis, Major depressive disorder, Melanoma, Noonan syndrome, Obsessive-compulsive disorder, Cushing's disease, Prostatic neoplasms, Schizophrenia, Sezary syndrome, Tethered cord syndrome, Tetralogy of fallot, Papillary thyroid cancer, Thyroid neoplasms, Tourette syndrome, Hypertension, Ventricular hypertrophy, Ventricular septal defect, Noonan syndrome with multiple lentigines
Unreviewed: Abnormal dermatoglyphic pattern, Absent eyebrow, Acoustic Neuroma, Acquired Kyphoscoliosis, Acral Lentiginous Malignant Melanoma, Acromegaly, Actinic keratosis, Adamantinous Craniopharyngioma, Adenocarcinoma, Adenocarcinoma Of Colon, Adenocarcinoma Of Rectum, Adenoid cystic carcinoma, Adenoma, Adjustment Disorders, Adrenal Gland Pheochromocytoma, Adrenal Insufficiency, Adrenocortical adenoma, Adrenocortical carcinoma, Alopecia, Amegakaryocytic thrombocytopenia, Anal Cancer, Anaplasia, Anaplastic Astrocytoma, Anaplastic Carcinoma, Anaplastic Lymphoma, Anaplastic Oligoastrocytoma, Anaplastic thyroid cancer, Androgen insensitivity syndrome, Anemia, Aneuploidy, Angioimmunoblastic T-cell lymphoma, Anodontia, Anomalous Pulmonary Artery, Anus Neoplasms, Aortic Coarctation, Apocrine Adenoma, Arteriovenous malformations, Arthralgia, Arthritis, Asthenia, Ataxia Telangiectasia, Atrial myxoma, Atrial Septal Defect, Atrophy, Autoimmune disease, Autoimmune Diseases, Autoimmune Thyroiditis, B-Cell Lymphoma, B-Cell Neoplasm, Basal cell carcinoma, Benign Neoplasm, Benign Neoplasm Of Stomach, Beta-ketothiolase deficiency, Bile duct carcinoma, Bile duct neoplasms, Biliary Tract Cancer, Biliary tract neoplasms, Bladder carcinoma, Bladder Neoplasm, Blau syndrome, Blue Nevus, Bone disease, Bone marrow diseases, Brachycephaly, Brachydactyly, Brain disease, Brain Neoplasms, Brain Stem Glioma, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchial disease, Bundle Branch Block, Burkitt lymphoma, Burkitt`s Lymphoma, Cachexia, Cafe-au-lait spot, Calcinosis, Camptodactyly of fingers, Carcinoid tumor, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma of Lip, Carcinosarcoma, Cardiomyopathy, Cardiovascular disease, Carney complex, Cecal neoplasms, Central nervous system disease, Central nervous system neoplasm, Central Nervous System Neoplasms, Cerebellar Ataxia, Cerebral amyloid angiopathy, Cerebral arteriovenous malformation, Cerebral cortical atrophy, Cholangiocarcinoma, Cholecystolithiasis, Chordoma, Choriocarcinoma, Choroidal melanoma, Chromosomal instability, Clinodactyly, CNS Disorder, Coenzyme q10 deficiency, Cognitive disorder, Colitis, Colon Carcinoma, Colonic disease, Colonic neoplasm, Colonic Neoplasms, Colonic polyps, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Complement component deficiency, Confusion, Congenital Arteriovenous Malformation, Congenital Bronchogenic Cyst, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital diarrhea, Congenital Epicanthus, Congenital heart defects, Congenital Heart Disease, Congenital hypothyroidism, Congenital kyphoscoliosis, Congenital Melanocytic Nevus, Congenital melanocytic nevus syndrome, Congenital Mesoblastic Nephroma, Congenital myasthenic syndrome, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Congenital Strabismus, Congenital thrombotic thrombocytopenic purpura, Conjunctival disease, Coronary artery disease, Crohn Disease, Cryptorchidism, Cubitus valgus, Cutaneous mastocytosis, Cystic hygroma, Dermatitis, Dermatologic Disorders, Dermoid Cyst, Development Disorder, Developmental and epileptic encephalopathy, Developmental Delay, Developmental disability, Developmental regression, Diabetes Insipidus, Diabetes Mellitus, Diarrhea, Diastrophic dysplasia, Diffuse Lymphoma, Digeorge syndrome, Disseminated Intravascular Coagulation, Dolichocephaly, Ductal Carcinoma, Ductal carcinoma of breast, Dupuytren contracture, Dwarfism, Dysarthria, Dysembryoplastic Neuroepithelial Tumor, Dysmorphic Features, Dysphagia, Dysplastic Nevus, Ectodermal dysplasia, Ectrodactyly, Encephalitis, Encephalopathy, Endometrial Adenocarcinoma, Endometrial Cancer, Endometrial carcinoma, Endometrial hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid cancer, Endometriosis, Eosinophilia, Ependymoma, Epidermal nevus, Epidermal nevus syndrome, Epidermolysis bullosa, Epilepsy, Epileptic encephalopathy, Epithelial ovarian carcinoma, Epithelioma, Erdheim-Chester Disease, Erythema nodosum, Esophageal Atresia, Esophageal Cancer, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Esotropia, Exanthema, Eye Neoplasms, Factor X Deficiency, Factor XII Deficiency, Female infertility, Fibrillary Astrocytoma, Fibroma, Fibromatosis, Fibrosarcoma, Fleck Corneal Dystrophy, Focal cortical dysplasia, Follicular cyst, Follicular thyroid cancer, Follicular Thyroid Carcinoma, Frontal bossing, Gallbladder cancer, Gallbladder neoplasm, Ganglioglioma, Gastric Cancer, Gastroesophageal Reflux Disease, Gastrointestinal disease, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Gemistocytic Astrocytoma, Genetic predisposition to disease, Genital Neoplasms, Female, Giant Cell Glioblastoma, Giant cell tumor of bone, Glioblastoma, Gliosarcoma, Glomerulonephritis, Glycogen Storage Disease, Grade I Astrocytoma, Granulomatosis with polyangiitis, Granulomatous Slack Skin, Growth disorder, Hairy Cell Leukemia, Hamartoma, Hashimoto Disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Head And Neck Neoplasms, Headache, Hearing Loss, Heart disease, Heart Diseases, Hemangioma, Cavernous, Hemangiosarcoma, Hematologic disease, Hematologic neoplasm, Hematologic Neoplasms, Hemorrhage, Hepatitis c, Hepatolenticular Degeneration, Hereditary breast and ovarian cancer syndrome, Hereditary cancer, Hereditary Cancer Syndrome, Hereditary cutaneous melanoma, Hereditary Hemorrhagic Telangiectasia, Hereditary motor and sensory neuropathies, Hereditary nonpolyposis colorectal cancer, Hereditary Pancreatitis, Hereditary pyropoikilocytosis, High palate, Histiocytosis, Hodgkin Disease, Hodgkin Lymphoma, Hydrocephalus, Hydronephrosis, Hypercalcemia, Hypereosinophilic syndrome, Hyperkeratosis, Hyperkeratosis Pilaris, Hyperlipoproteinemia, Hyperparathyroidism, Hyperplasia, Hyperplastic Polyposis Syndrome, Hypersensitivity, Hypertrophy, Hypocalcemia, Hypocholesterolemia, Hypogonadotropic Hypogonadism, Hypoplasia Of Corpus Callosum, Hypospadias, Hypothyroidism, Hypotonia, Ichthyosis, Immunologic Deficiency Syndromes, Impaired Cognition, Infantile spasms, Inflammatory Bowel Disease, Inflammatory Myofibroblastic Tumor, Insulinoma, Intermediate Grade Lymphoma, Intestinal Cancer, Intestinal neoplasm, Intestinal polyposis, Intracranial arteriovenous malformation, Intracranial Astrocytoma, Intracranial hypertension, Intracranial Neoplasm, Intraepithelial Neoplasia, Intrahepatic Cholangiocarcinoma, Invasive Duct and Lobular Carcinoma, Iris melanoma, Iron deficiency anemia, Kabuki Syndrome, Keratocystic Odontogenic Tumor, Keratosis, Keratosis pilaris, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Langerhans Cell Histiocytosis, Large cell carcinoma, Leigh syndrome, Lentigo maligna melanoma, LEOPARD Syndrome, Leukemia, Leukemoid Reaction, Leukopenia, Lichen amyloidosis, Lichenoid Eruptions, Limb-girdle muscular dystrophy, Lip and Oral Cavity Carcinoma, Lipogranuloma, liposarcoma, Liver Cancer, Liver carcinoma, Liver failure, Liver neoplasm, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, LUSCAN-LUMISH SYNDROME, Lymphatic Metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphohistiocytosis, Lymphoma, Lymphopenia, Lymphoproliferative Disorder, Lymphoproliferative syndrome, Lynch Syndrome, Macrocephaly, Macrostomia, Macrotia, Madarosis Of Eyebrow, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Testis, Malignant Peripheral Nerve Sheath Tumor, Malignant Uterine Corpus Neoplasm, Mammary Neoplasms, Mandibular Neoplasms, Mantle Cell Lymphoma, Marfan Syndrome, Marinesco-Sjogren Syndrome, Mason type diabetes, Mastocytosis, Medullary carcinoma, Medullary thyroid cancer, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanocytic nevus, Melanosis, Meningioma, Mental retardation, Merkel cell carcinoma, Mesial temporal lobe epilepsy with hippocampal sclerosis, Mesothelioma, Metabolic Syndrome, Metastatic Melanoma, Microcephaly, Micrognathism, Microphthalmos, Milroy Disease, Mitral Valve Prolapse, MOHR-TRANEBJAERG SYNDROME, Monocytic Leukemia, Mouth disease, Mouth neoplasm, Movement Disorders, Mucinous Adenocarcinoma, Mucoepidermoid Carcinoma, Mucosa-associated lymphoma, Mucosal Melanoma, Mucositis, Multiple Congenital Anomalies, Multiple lentigines, Multiple myeloma, Multiple Nevi, Multiple polyposis syndrome, Multiple sclerosis, Multiple system atrophy, Myelodysplasia, Myelodysplastic Syndrome, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myopia, Myositis, Myotonic dystrophy, Nasal polyposis, Nasopharyngeal Carcinoma, Nausea, Neck Neoplasms, Neck Webbing, Neoplasms, Nephritis, Nephroblastoma, Nephrotic Syndrome, Nervous system disease, Nervous System Neoplasms, Neurilemmoma, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuroendocrine Tumors, Neurofibroma, Neurofibromatosis, Neurofibrosarcoma, Neurogenic diabetes insipidus, Neutropenia, Neutropenia, nonimmune chronic idiopathic, adult, Nevus, Nodular Goiter, Non-Hodgkin lymphoma, Nongerminomatous Tumor, Nonmedullary thyroid carcinoma, Noonan Syndrome, Noonan-Like Syndrome With Loose Anagen Hair, Nystagmus, Obesity, Oculocerebrorenal syndrome, Oculocutaneous albinism, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Odontogenic Tumor, Oligoastrocytoma, Oligodendroglioma, Optic Atrophy, Oral submucous fibrosis, Oropharyngeal Neoplasm, Osteopenia, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian serous adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Oxyphilic Adenoma, Palmoplantar keratoderma, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Cyst, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Panniculitis, Papillary Craniopharyngioma, Papillary Meningioma, Papillary Renal Carcinoma, Papillary Syringocystadenoma, Papillary thyroid carcinoma, Papilledema, Papilloma, Paraganglioma, Paramyotonia Congenita, Paresthesia, Parkinson disease, Partial epilepsy, Patent ductus arteriosus, Pelvic inflammatory disease, Pericardial effusion, Perineurioma, Peripheral Neuropathy, Peritoneal Carcinomatosis, Peritoneal neoplasm, Peritonitis, PHACE Association, Phakomatosis pigmentovascularis, Pheochromocytoma, Pilomyxoid Astrocytoma, Pineal Gland Neoplasm, Pituitary adenoma, Pituitary hormone deficiency, Pituitary Neoplasms, Pleomorphic Xanthoastrocytoma, Polyarthritis, Polycystic kidney disease, Polycythemia vera, Polyp Of Large Intestine, Polyposis, Posteriorly Rotated Ear, Postnatal asphyxia, Prader-Willi Syndrome, Primary Tethered cord syndrome, Promyelocytic Leukemia, Proptosis, Prostate adenocarcinoma, Prostate cancer, Prostatic intraepithelial neoplasia, Prostatic neoplasm, Prostatic Neoplasms, Protoplasmic Astrocytoma, Pruritus, Psammomatous Meningioma, Psoriatic Arthritis, Ptosis, Pulmonary Stenosis, Pyogenic granuloma, Radioulnar Synostosis, Rectal Carcinoma, Rectal Neoplasms, Renal Carcinoma, Renal cell carcinoma, Renal dysplasia, Renal Insufficiency, Renal tubular necrosis, Reticulosarcoma, Retinal Diseases, Retinoblastoma, Retinoschisis, X-Linked, Rhabdoid tumor, Rhabdomyolysis, Rhabdomyosarcoma, Rheumatoid arthritis, Rufous oculocutaneous albinism, Salaam Seizures, Salivary gland neoplasm, Salivary gland neoplasms, Sarcoidosis, Sarcoma, Sclerosis, Scoliosis, Seizures, Seminoma, Sensorineural hearing loss, Sezary Syndrome, Sick sinus syndrome, Sinus Histiocytosis, Sinusitis, Skin cancer, Skin carcinoma, Skin disease, Skin Lesion, Skin Melanoma, Skin neoplasm, Skin Neoplasms, Sleep Apnea, Sleep disorder, Small cell carcinoma, Small cell lung carcinoma, Soft Tissue Neoplasms, Somatotroph adenoma, Spina bifida occulta, Spinal muscular atrophy, Spitz nevus, Split hand foot deformity, Sprengel Deformity, Squamous cell carcinoma, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Submucosal cleft palate, Supratentorial Neoplasm, Syndromic microphthalmia, Synovial sarcoma, Synovitis, Systemic mastocytosis, Tarsal-Carpal Coalition Syndrome, Temporal lobe epilepsy, Teratoid Rhabdoid Tumor, Teratoma, Testicular germ cell tumor, Testicular neoplasm, Tetralogy of Fallot, Thrombasthenia, Thrombocytopenia, Thymoma, Thymus Neoplasms, Thyroid cancer, Thyroid Carcinoma, Thyroid disease, Thyroid Diseases, Thyroid Gland Follicular Adenoma, Thyroid Hyperplasia, Thyroid Neoplasm, Thyroid Nodule, Thyroiditis, Transitional cell carcinoma, Tremor, Triple negative breast cancer, Tuberous Sclerosis, Tumor, TUMOR PREDISPOSITION SYNDROME, Turcot syndrome, Turner Syndrome, Male, Ulcerative colitis, Urinary bladder cancer, Urinary bladder neoplasms, Uterine disease, Uveal Melanoma, Uveitis, Vasculitis, Vipoma, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, Waldenstrom`s Macroglobulinemia, Warburg micro syndrome, Wilms tumor, Xeroderma Pigmentosum
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568
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BRCA1 DNA repair associated |
BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53 |
Curated: Breast cancer, Breast implant-associated anaplastic large cell lymphoma, Breast neoplasms, Hereditary breast-ovarian cancer syndrome, Carcinoma, Adenoid cystic carcinoma, Cholangiocarcinoma, Major depressive disorder, Pancreatic cancer, Prostate cancer, Fanconi anemia, Hereditary breast and ovarian cancer syndrome, Hereditary breast cancer, Hypertension, Mouth disease, Ovarian cancer, Ovarian neoplasms, Pancreatic neoplasms, Periventricular nodular heterotopia, Prostatic neoplasms, Schizophrenia, fanconi anemia, complementation group s, BRCA1-related cancer predisposition
Unreviewed: 22q13 monosomy syndrome, Adenocarcinoma, Adenocarcinoma Of Rectum, Adenoma, Agenesis Of Corpus Callosum, Aicardi syndrome, Alternating hemiplegia of childhood, Alzheimer disease, Amenorrhea, Amyotrophic Lateral Sclerosis, Anaplasia, Anaplastic Carcinoma, Anemia, Aneuploidy, Angle Closure Glaucoma, Anodontia, Anophthalmia, Anorexia, Anus neoplasm, Anxiety Disorder, Aortic Valve Insufficiency, Aplasia Cutis Congenita, Arteriosclerosis, Astigmatism, Astrocytoma, Ataxia Telangiectasia, Atherosclerosis, Atrial Septal Defect, Autism Spectrum Disorder, Autoimmune disease, Azoospermia, Barrett esophagus, Basal cell carcinoma, Basal cell nevus syndrome, Benign Neoplasm, Benign Prostatic Hyperplasia, Benign Tumor Of Pancreas, Biliary Cirrhosis, Biliary tract neoplasms, Bladder carcinoma, Bladder Neoplasm, Blepharophimosis, Blood coagulation disorder, Bloom Syndrome, Bohring syndrome, Bone disease, Bone marrow failure syndromes, Bone neoplasm, Brain Neoplasms, Brain stem neoplasms, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast Carcinoma, male, Breast disease, Breast fibrocystic disease, Breast Hyperplasia, Breast neoplasm, Burkitt`s Lymphoma, Cafe-au-lait spot, Camptodactyly of fingers, Cancer, Cap myopathy, Carcinogenesis, Carcinoma Of The Head And Neck, Carcinoma in situ, Carcinosarcoma, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Cataract, Central nervous system disease, Central nervous system neoplasm, Cerebral Ischemia, Cerebrovascular Disorders, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Choanal Atresia, Cholestasis, Chromosomal instability, Chronic obstructive pulmonary disease, Cleft palate, Clinodactyly, Cockayne syndrome, Cognition disorder, Cognitive disorder, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Comedone, Congenital abnormalities, Congenital Arteriovenous Malformation, Congenital Chromosomal Disease, Congenital Epicanthus, Congenital Exomphalos, Congenital Malformation Syndrome, Congenital melanocytic nevus syndrome, Congenital thrombotic thrombocytopenic purpura, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Coronary Stenosis, Coronary Syndrome, Cranial Nerve Paralysis, Craniosynostosis, Cryptorchidism, Cyclic neutropenia, Cyst, Cystic Fibrosis, Dementia, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diffuse Lymphoma, Distal myopathy, Dolichocephaly, Down syndrome, Dubowitz syndrome, Duchenne Muscular Dystrophy, Ductal carcinoma, Ductal carcinoma of breast, Dwarfism, Dysgerminoma, Dysplastic Nevus, Dystonia, Ectodermal dysplasia, Emery-Dreifuss Muscular Dystrophy, Endocrine system disease, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid cancer, Endometrioid carcinoma, Endometrioma, Endometriosis, Epithelial ovarian carcinoma, Epithelioma, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Ewing sarcoma, Exocrine pancreatic insufficiency, Facial dysmorphism syndrome, Fallopian Tube Carcinoma, Fanconi Anemia, Fish-Eye Disease, Folic Acid Deficiency, Follicular Thyroid Carcinoma, Frontal bossing, Frontotemporal dementia, Gallbladder neoplasm, Gastric Cancer, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Genital Neoplasms, Female, Gestational diabetes, Gestational trophoblastic disease, Gilbert syndrome, Glaucoma, Glioblastoma, Glioma, Gliosarcoma, Glycogen Storage Disease, Graft-versus-host disease, Growth disorder, Hamartoma, Head And Neck Carcinoma, Head and neck neoplasm, Head And Neck Neoplasms, Heart disease, Heart Failure, Hematologic disease, Hematologic Neoplasms, Hemolytic anemia, Hemophilia, Hepatitis b, Hepatocellular carcinoma, Hereditary Breast And Ovarian Cancer Syndrome, Hereditary Breast Cancer, Hereditary cancer, Hereditary Cancer Syndrome, Hereditary Site-Specific Ovarian Cancer Syndrome, High palate, Hirschsprung Disease, Hodgkin Disease, Huntington Disease, Hydatidiform mole, Hydrocephalus, Hyperhomocysteinemia, Hyperkinesia, Hyperoxaluria, Hyperproinsulinemia, Hypersensitivity, Hyperthyroidism, HYPERTRICHOSIS, Hypertrophic cardiomyopathy, Hypertrophy, Hypogonadism, Hypospadias, Hypothyroidism, Hypoxia, Ichthyosis, Immunologic Deficiency Syndromes, Impaired Cognition, Imperforate anus, Infertility, Inflammatory Bowel Disease, Insulinoma, Intermediate coronary syndrome, Intestinal Pseudoobstruction, Intracranial Neoplasm, Intraductal noninfiltrating carcinoma, Intraepithelial Neoplasia, Intrahepatic Cholangiocarcinoma, Invasive Duct and Lobular Carcinoma, Ischemic Stroke, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Large cell carcinoma, Laryngeal carcinoma, Laryngeal neoplasm, Larynx cancer, Leiomyoma, Leiomyosarcoma, Leiomyosarcoma Of Uterus, Leukemia, Leukopenia, Leukoplakia, Li-Fraumeni Syndrome, Lipoma, Lipomatosis, Liver carcinoma, Liver cirrhosis, Liver neoplasms, Lobular carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Neoplasms, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lynch Syndrome, Macrodontia, Male breast neoplasms, Malignant gastrointestinal tract tumors, Malignant hyperthermia, Malignant Mesothelioma, Malignant Neoplasm, Malignant Neoplasm Of Tongue, Malignant Peripheral Nerve Sheath Tumor, Malnutrition, Mammary Neoplasms, Marfan Syndrome, Meckel Diverticulum, Medullary carcinoma, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Meningioma, Mental Depression, Mental Disorders, Mental retardation, Merkel cell carcinoma, Mesothelioma, Metabolic Syndrome, Metastatic Prostate Carcinoma, Microcephaly, Micrognathism, Microphthalmos, Microvascular angina, Miller Dieker Syndrome, Miscarriage, Mitochondrial disease, Mixed Anxiety And Depressive Disorder, Monocytic Leukemia, Mood Disorder, Mosaic variegated aneuploidy, Mouth Diseases, Mouth neoplasm, Moyamoya Disease, Mucinous Adenocarcinoma, Mucopolysaccharidosis, Multifocal breast carcinoma, Multiple Endocrine Neoplasia, Multiple myeloma, Multiple polyposis syndrome, Multiple Sclerosis, Multiple Trichoepithelioma, Myelodysplasia, Myelodysplastic Syndrome, Myelodysplastic-Myeloproliferative Diseases, Myeloid Leukemia, Myocardial Infarction, Myocardial ischemia, Myopathy, Myotonic dystrophy, Nance-Horan Syndrome, Nasopharyngeal Carcinoma, Nausea, Necrosis, Nemaline myopathy, Neoplasm of male breast, Neoplasms, Nephroblastoma, Nervous system disease, Neuroblastoma, Neurofibromatosis, Neutropenia, Nijmegen Breakage Syndrome, Non-Hodgkin lymphoma, Nystagmus, Obesity, Oculocutaneous albinism, Oestrogen Receptor Positive Breast Cancer, Oligodendroglioma, Oligospermia, Oral submucous fibrosis, Orofacial Cleft, Oropharyngeal carcinoma, Osteoarthritis, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian adenocarcinoma, Ovarian Carcinoma, Ovarian Cysts, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Ovarian Papillary Adenocarcinoma, Ovarian serous adenocarcinoma, Pancreatic adenocarcinoma, Pancreatic carcinoma, Pancreatic Cyst, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Pancytopenia, Papillary thyroid cancer, Papillary thyroid carcinoma, Papilloma, Parkinson disease, Paroxysmal ventricular fibrillation, Patent ductus arteriosus, Pelvic inflammatory disease, Periodontitis, Peritoneal Carcinoma, Peritoneal Carcinomatosis, Peritoneal neoplasm, Peritonitis, Petit Mal Status, Peutz-Jeghers Syndrome, Phyllodes Tumor, Pica, Polyarteritis Nodosa, Polycystic kidney disease, Polycystic ovary syndrome, Polycythemia vera, Premature aging, Premature Menopause, Progeria, Progressive Supranuclear Palsy, Promyelocytic Leukemia, Proptosis, Prostate adenocarcinoma, Prostatic Hyperplasia, Prostatic Hypertrophy, Prostatic neoplasm, Prostatic Neoplasms, Ptosis, Radiation-Induced Cancer, Renal Carcinoma, Renal cell carcinoma, Renal Insufficiency, Respiratory system infectious disease, Retinoblastoma, Rhabdomyosarcoma, Riddle Syndrome, Rufous oculocutaneous albinism, Salivary gland neoplasms, Sarcoma, Scoliosis, Sebaceous Adenocarcinoma, Seckel Syndrome, Seizures, Senile Dementia, Sepsis, Septicemia, Sick sinus syndrome, Skin cancer, Skin Carcinoma, Skin Erosion, Skin neoplasm, Sleep disorder, Small cell carcinoma, Small cell lung carcinoma, Specific language disorder, Spina Bifida, Squamous cell carcinoma, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Strabismus, Stress Disorder, Stroke, Sveinsson Chorioretinal Atrophy, Syndactyly of fingers, Syndactyly Of The Toes, Syndromic microphthalmia, Tauopathies, Teratoma, Testicular Germ Cell Tumor, Testicular neoplasm, Tetralogy of Fallot, Thrombasthenia, Thrombocytopenia, Thrombophilia, Thrombosis, Thyroid cancer, Thyroid Carcinoma, Tic Disorder, Tongue carcinoma, Tongue Neoplasms, Tourette syndrome, Transient Ischemic Attack, Transitional cell carcinoma, Trichohepatoenteric Syndrome, Trichothiodystrophy, Trigeminal neuralgia, Triple negative breast cancer, Triple Negative Breast Neoplasms, Turcot syndrome, Urinary bladder cancer, Urinary bladder neoplasms, Uterine disease, Uterine Fibroids, Uterine neoplasm, Uveal Melanoma, Vascular Diseases, Von Hippel-Lindau Syndrome, Werner Syndrome, Wilms tumor, Xeroderma Pigmentosum
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570
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BRCA2 DNA repair associated |
BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11 |
Curated: Basal cell carcinoma, Biliary tract cancer, Bipolar disorder, Breast cancer, Breast implant-associated anaplastic large cell lymphoma, Breast neoplasms, Hereditary breast-ovarian cancer syndrome, Bronchus cancer, Cancer, Cerebral palsy, Cervical cancer, Cholangiocarcinoma, Chordoma, Colorectal cancer, Melanoma, Cutaneous squamous cell carcinoma, Endometrial cancer, Esophageal cancer, Estrogen-receptor negative breast cancer, Pancreatic cancer, Prostate cancer, Fanconi anemia, Gastric cancer, Glioma, Hearing loss, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary breast cancer, Intellectual developmental disorder, Kabuki syndrome, Keratinocyte carcinoma, Lung cancer, Lung neoplasms, Medulloblastoma, Multiple myeloma, Non-hodgkins lymphoma, Non-melanoma skin carcinoma, Non-small cell lung carcinoma, Ovarian cancer, Ovarian neoplasms, Ovarian serous carcinoma, Pancreatic neoplasms, Pituitary dwarfism, Polydactyly, Prostatic neoplasms, Respiratory system cancer, Sarcoma, Seizures, Skin cancer, Skin disease, Skin neoplasms, Small cell lung carcinoma, Squamous cell carcinoma, Tumor predisposition syndrome, Upper aerodigestive tract neoplasm, Wilms tumor, fanconi anemia complementation group d1, BRCA2-related cancer predisposition
Unreviewed: 22q13 monosomy syndrome, Accessory Nipple, Adenocarcinoma, Adenocarcinoma Of Rectum, Adenoid cystic carcinoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Alzheimer disease, Amenorrhea, Ampullary Carcinoma, Amyloidosis, Anemia, Aneuploidy, Aniridia, Anodontia, Anophthalmia, Anorexia, Antley-Bixler Syndrome, Anus neoplasm, Anxiety Disorder, Aphasia, Aplasia Cutis Congenita, Aplastic anemia, Asthma, Astigmatism, Astrocytoma, Ataxia, Ataxia Telangiectasia, Ataxia-Telangiectasia-Like Disorder, Atrial Septal Defect, Atrophy, Attention Deficit Hyperactivity Disorder, Atypical Mole Melanoma Syndrome, Autism, Autoimmune disease, Azoospermia, B-Cell Lymphoma, Basal Cell Neoplasm, Benign Tumor Of Pancreas, Bile duct neoplasms, Biliary tract neoplasms, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Bloom Syndrome, Bohring syndrome, Bone marrow failure syndromes, Brain glioma, Brain Neoplasms, Brain stem neoplasms, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast Carcinoma, male, Breast disease, Breast fibrocystic disease, Breast Hyperplasia, Breast neoplasm, Cafe-au-lait spot, Calcinosis, Camptodactyly of fingers, Cap myopathy, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma in situ, Carcinosarcoma, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Cataract, Central nervous system disease, Central nervous system neoplasm, Central Nervous System Neoplasms, Cerebellar ataxia, Cerebellar hypoplasia, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Choanal Atresia, Cholestasis, Choreoathetosis, Chromosomal instability, Cleft palate, Cockayne Syndrome, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Complement component deficiency, Congenital Arteriovenous Malformation, Congenital Chromosomal Disease, Congenital diarrhea, Congenital Epicanthus, Congenital Exomphalos, Congenital thrombotic thrombocytopenic purpura, Congestive Heart Failure, Coronary artery disease, Cranial Nerve Paralysis, Craniosynostosis, Cryptorchidism, Cyclic neutropenia, Deglutition disorder, Dementia, Desmoid tumor, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diffuse Intrinsic Pontine Glioma, Diffuse Lymphoma, Digeorge syndrome, Digestive system neoplasm, Dihydropyrimidine Dehydrogenase Deficiency, Dolichocephaly, Down syndrome, Duchenne Muscular Dystrophy, Ductal carcinoma, Ductal carcinoma of breast, Dwarfism, Dysmorphic Features, Dystonia, Ear Diseases, Ectodermal dysplasia, Ectopic kidney, Embryonal Neoplasm, Endocrine system disease, Endocrine System Diseases, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid cancer, Endometrioid carcinoma, Endometriosis, Epithelial ovarian carcinoma, Epithelioma, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Ewing sarcoma, Exocrine pancreatic insufficiency, Eye neoplasms, Fallopian Tube Carcinoma, Familial cylindromatosis, Fanconi Anemia, Favism, Focal cortical dysplasia, Folic Acid Deficiency, Fragile X Syndrome, Friedreich Ataxia, Frontal bossing, Gallbladder neoplasm, Gastric Cancer, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Glioblastoma, Gliosarcoma, Graft-versus-host disease, Gynecomastia, Hamartoma, Hashimoto disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Heart disease, Heart Failure, Hemangiosarcoma, Hematologic disease, Hematologic neoplasm, Hematologic Neoplasms, Hemochromatosis, Hemolytic anemia, Hepatitis b, Hepatoblastoma, Hereditary Breast And Ovarian Cancer Syndrome, Hereditary Breast Cancer, Hereditary cancer, Hereditary Cancer Syndrome, Hereditary Pancreatitis, Hereditary Site-Specific Ovarian Cancer Syndrome, High palate, Hirschsprung Disease, Hodgkin Disease, Huntington disease, Hydrocephalus, Hyperlipoproteinemia, Hyperparathyroidism, Hypersensitivity, Hypertension, Hypertrophic cardiomyopathy, Hypogonadism, Hypophosphatemic rickets, Hypospadias, Hypoxia, Ichthyosis, Idiopathic pulmonary fibrosis, Immune system disease, Impaired Cognition, Imperforate anus, Infertility, Inherited Cancer-Predisposing Syndrome, Intestinal Pseudoobstruction, Intraductal noninfiltrating carcinoma, Intraepithelial Neoplasia, Intrahepatic Cholangiocarcinoma, Invasive Duct and Lobular Carcinoma, Ischemic Stroke, Islet Cell Tumor, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Large cell carcinoma, Laryngeal Carcinoma, Laryngeal neoplasm, Larynx cancer, Leiomyosarcoma, Leukemia, Leukopenia, Lewy Body Disease, Li-Fraumeni Syndrome, Lichen amyloidosis, Liver carcinoma, Liver cirrhosis, Liver neoplasms, Lobular carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lynch Syndrome, Major depressive disorder, Male breast neoplasms, Malignant gastrointestinal tract tumors, Malignant hyperthermia, Malignant Mesothelioma, Malignant Neoplasm, Malignant Peripheral Nerve Sheath Tumor, Malnutrition, Mammary Neoplasms, Marfan Syndrome, Mason type diabetes, Meckel Diverticulum, Medullomyoblastoma, Meningioma, Mental Depression, Mental retardation, Merkel cell carcinoma, Mesothelioma, Metabolic Diseases, Metastatic Prostate Carcinoma, Microcephaly, Micrognathism, Microphthalmos, Miller Dieker Syndrome, Miscarriage, Mixed Anxiety And Depressive Disorder, Mosaic variegated aneuploidy, Mouth disease, Mouth neoplasm, Movement Disorders, Mucopolysaccharidosis, Mucositis, Multifocal breast carcinoma, Multiple Endocrine Neoplasia, Multiple polyposis syndrome, Multiple Sclerosis, Multiple Trichoepithelioma, Myelodysplasia, Myelodysplastic Syndrome, Myelofibrosis, Myeloid Leukemia, Myocardial Infarction, Nasopharyngeal Carcinoma, Neck Neoplasms, Nemaline myopathy, Neoplasm, Neoplasm of male breast, Neoplasms, Nephroblastoma, Nephrolithiasis, Nervous system disease, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neuroectodermal Tumors, Neuroendocrine Tumor Of Pancreas, Neuroendocrine Tumors, Neurofibromatosis, Neutropenia, Non-Hodgkin lymphoma, Nystagmus, Obesity, Oculocutaneous albinism, Oestrogen Receptor Positive Breast Cancer, Oligospermia, Open angle glaucoma, Oral submucous fibrosis, Orofacial Cleft, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian Carcinoma, Ovarian diseases, Ovarian endometrioid carcinoma, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Ovarian Papillary Adenocarcinoma, Ovarian serous adenocarcinoma, Ovarian Tumor, Pachyonychia Congenita, Paget disease, Pancreatic adenocarcinoma, Pancreatic carcinoma, Pancreatic Cyst, Pancreatic Ductal Carcinoma, Pancreatic Neoplasm, Pancreatitis, Pancytopenia, Papillary thyroid carcinoma, Papilloma, Parathyroid Gland Adenocarcinoma, Parkinson disease, Partial epilepsy, Patent ductus arteriosus, Peritoneal Carcinoma, Peritoneal Carcinomatosis, Peritoneal neoplasm, Peritonitis, Perivascular Epithelioid Neoplasms, Peutz-Jeghers Syndrome, Pheochromocytoma, Plagiocephaly, Polycystic ovary syndrome, Polycythemia vera, Pontoneocerebellar hypoplasia, Premature Menopause, Proptosis, Prostate adenocarcinoma, Prostatic intraepithelial neoplasia, Prostatic neoplasm, Prostatic Neoplasms, Ptosis, Pulmonary Fibrosis, Rectal Carcinoma, Renal cell carcinoma, Renal Insufficiency, Respiratory system infectious disease, Retinoblastoma, Rhabdomyosarcoma, Rufous oculocutaneous albinism, Schizophrenia, Scoliosis, Seminoma, Senile Dementia, Sezary syndrome, Skin Carcinoma, Sleep disorder, Small cell carcinoma, Spina Bifida, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Strabismus, Syndactyly of fingers, Syndactyly Of The Toes, Syndromic microphthalmia, Tetralogy of Fallot, Thrombophilia, Thyroid cancer, Thyroid Carcinoma, Thyroid Papillary Adenoma, Tracheoesophageal fistula, Trichohepatoenteric Syndrome, Triple negative breast cancer, Triple Negative Breast Neoplasms, TUMOR PREDISPOSITION SYNDROME, Turcot syndrome, Undifferentiated ovarian carcinoma, Urinary bladder cancer, Urinary bladder diseases, Urinary bladder neoplasms, Urinary Tract Cancer, Urothelial Carcinoma, Uterine disease, Uterine neoplasm, Uveal Melanoma, Vacterl association, Von Hippel-Lindau Syndrome, Werner syndrome, Xeroderma pigmentosum
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