TaoMedAI/RareMedData huggingface dataset:
Gene: BRAF
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Hypertension (HP:0000822)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Male infertility (HP:0003251)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Chylothorax (HP:0010310)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Premature thelarche (HP:0010314)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Purpura (HP:0000979)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Pruritus (HP:0000989)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Skin rash (HP:0000988)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Dry skin (HP:0000958)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Dry skin (HP:0000958)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Dry skin (HP:0000958)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Dry skin (HP:0000958)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Thin skin (HP:0000963)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Osteopenia (HP:0000938)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Osteopenia (HP:0000938)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Sparse hair (HP:0008070)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Sparse hair (HP:0008070)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Fistulous vegetative verrucous hydradenoma; Papillary syringocystadenoma; Naevus syringocystadenomatosus papilliferus; Syringocystadenoma papilliferum; SCAP; Syringadenoma papilliferum (ORPHA:840)
Gene: BRAF
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Uveal melanoma (HP:0007716)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: BRAF
Phenotype: Abnormal hypothalamus morphology (HP:0012286)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Epicanthus (HP:0000286)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Epicanthus (HP:0000286)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Epicanthus (HP:0000286)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Epicanthus (HP:0000286)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Full cheeks (HP:0000293)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Long face (HP:0000276)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: BRAF
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Redundant skin (HP:0001582)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Brachycephaly (HP:0000248)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: High palate (HP:0000218)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: High palate (HP:0000218)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: High palate (HP:0000218)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: High palate (HP:0000218)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BRAF
Phenotype: Melanoma (HP:0002861)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Genu valgum (HP:0002857)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Large for gestational age (HP:0001520)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Growth delay (HP:0001510)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Growth delay (HP:0001510)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Growth delay (HP:0001510)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Growth delay (HP:0001510)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Growth delay (HP:0001510)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Obesity (HP:0001513)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Thickened helices (HP:0000391)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Thickened helices (HP:0000391)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Thickened helices (HP:0000391)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: BRAF
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Low-set ears (HP:0000369)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Low-set ears (HP:0000369)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Narrow forehead (HP:0000341)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: BRAF
Phenotype: Broad forehead (HP:0000337)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: High forehead (HP:0000348)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: High forehead (HP:0000348)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Micrognathia (HP:0000347)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Micrognathia (HP:0000347)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Micrognathia (HP:0000347)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)