TaoMedAI/RareMedData huggingface dataset:
Gene: BRAF
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Triangular face (HP:0000325)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Triangular face (HP:0000325)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Triangular face (HP:0000325)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Premature birth (HP:0001622)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Premature birth (HP:0001622)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: BRAF
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Abnormality of the chin (HP:0000306)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Progressive visual field defects (HP:0007987)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Macrotia (HP:0000400)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Strabismus (HP:0000486)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Strabismus (HP:0000486)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Strabismus (HP:0000486)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Strabismus (HP:0000486)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: BRAF
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Short neck (HP:0000470)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Short neck (HP:0000470)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Short neck (HP:0000470)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Webbed neck (HP:0000465)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Webbed neck (HP:0000465)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Webbed neck (HP:0000465)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Webbed neck (HP:0000465)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BRAF
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BRAF
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BRAF
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Proptosis (HP:0000520)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: BRAF
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Proptosis (HP:0000520)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Weight loss (HP:0001824)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Ptosis (HP:0000508)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Ptosis (HP:0000508)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Ptosis (HP:0000508)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Ptosis (HP:0000508)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: BRAF
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Myopia (HP:0000545)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Myopia (HP:0000545)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Myopia (HP:0000545)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRCA2
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Visual field defect (HP:0001123)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Hypertonia (HP:0001276)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Seizure (HP:0001250)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Dysarthria (HP:0001260)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: BRCA2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Malaise (HP:0033834)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 (OMIM:605724)
Gene: BRCA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLIOMA SUSCEPTIBILITY 3 (OMIM:613029)
Gene: BRCA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: BRCA2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: GLIOMA SUSCEPTIBILITY 3 (OMIM:613029)
Gene: BRCA2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: BRCA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BRCA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: BRCA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 (OMIM:612555)
Gene: BRCA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: BRCA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: BRCA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)