TaoMedAI/RareMedData huggingface dataset:
Gene: BRCA1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRCA1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Fever (HP:0001945)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: BRCA1
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BRCA1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 (OMIM:604370)
Gene: BRCA1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRCA1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Colon cancer (HP:0003003)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Chromosome breakage (HP:0040012)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: PPC; Serous surface papillary carcinoma; Primary peritoneal serous carcinoma; EOPPC; Extra-ovarian primary peritoneal carcinoma; Primary peritoneal carcinoma (ORPHA:168829)
Gene: BRCA1
Phenotype: Pruritus (HP:0000989)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: BRCA1
Phenotype: Jaundice (HP:0000952)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: BRCA1
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Sparse hair (HP:0008070)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Macrodontia (HP:0001572)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRCA1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRCA1
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Fatigue (HP:0012378)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: BRCA1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRCA1
Phenotype: Functional intestinal obstruction (HP:0005249)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Extrahepatic cholestasis (HP:0012334)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRCA1
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRAF
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Visual field defect (HP:0001123)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Sudden loss of visual acuity (HP:0001117)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Abnormal nasal bone morphology (HP:0010939)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Anterior creases of earlobe (HP:0009908)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Nevus (HP:0003764)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Stroke (HP:0001297)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Panic attack (HP:0025269)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hypertonia (HP:0001276)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Seizure (HP:0001250)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Seizure (HP:0001250)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Seizure (HP:0001250)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Seizure (HP:0001250)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Seizure (HP:0001250)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Hypotonia (HP:0001252)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Ataxia (HP:0001251)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Dysarthria (HP:0001260)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Dysarthria (HP:0001260)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Polyphagia (HP:0002591)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Coma (HP:0001259)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Few cafe-au-lait spots (HP:0007429)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Craniopharyngioma (ORPHA:54595)