TaoMedAI/RareMedData huggingface dataset:
Gene: BRAF
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Numerous nevi (HP:0001054)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: BRAF
Phenotype: Numerous nevi (HP:0001054)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Numerous nevi (HP:0001054)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Numerous nevi (HP:0001054)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Plethora (HP:0001050)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Capillary fragility (HP:0025017)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Atypical nevus (HP:0001062)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: BRAF
Phenotype: Striae distensae (HP:0001065)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Acne (HP:0001061)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Scapular winging (HP:0003691)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Lymphedema (HP:0001004)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Lymphedema (HP:0001004)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Lymphedema (HP:0001004)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Hirsutism (HP:0001007)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Memory impairment (HP:0002354)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Vertigo (HP:0002321)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Headache (HP:0002315)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Headache (HP:0002315)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Headache (HP:0002315)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Papule (HP:0200034)
Associated disease: Fistulous vegetative verrucous hydradenoma; Papillary syringocystadenoma; Naevus syringocystadenomatosus papilliferus; Syringocystadenoma papilliferum; SCAP; Syringadenoma papilliferum (ORPHA:840)
Gene: BRAF
Phenotype: Nevus sebaceous (HP:0010815)
Associated disease: Fistulous vegetative verrucous hydradenoma; Papillary syringocystadenoma; Naevus syringocystadenomatosus papilliferus; Syringocystadenoma papilliferum; SCAP; Syringadenoma papilliferum (ORPHA:840)
Gene: BRAF
Phenotype: Open bite (HP:0010807)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Optic nerve dysplasia (HP:0001093)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Atypical nevi in non-sun exposed areas (HP:0001074)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: BRAF
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Papilledema (HP:0001085)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Neurofibrosarcoma (HP:0100697)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Pedal edema (HP:0010741)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Pulmonary Langerhans cell histiocytosis (HP:0034769)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: BRAF
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Decreased total eosinophil count (HP:0031891)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BRAF
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Nystagmus (HP:0000639)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Nystagmus (HP:0000639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Blue irides (HP:0000635)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Fever (HP:0001945)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Recurrent cutaneous fungal infections (HP:0011370)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Increased body weight (HP:0004324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Short stature (HP:0004322)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Short stature (HP:0004322)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Short stature (HP:0004322)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Short stature (HP:0004322)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Short stature (HP:0004322)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Short stature (HP:0004322)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Short stature (HP:0004322)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Congenital giant melanocytic nevus (HP:0005600)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: BRAF
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Cough (HP:0012735)
Associated disease: Langerhans cell granulomatosis; Langerhans cell histiocytosis; Histiocytosis X (ORPHA:389)
Gene: BRAF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Depression (HP:0000716)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Emotional lability (HP:0000712)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Dementia (HP:0000726)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Psychosis (HP:0000709)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: BRAF
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: BRAF
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: BRAF
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Short nose (HP:0003196)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Short nose (HP:0003196)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: BRAF
Phenotype: Superior pectus carinatum (HP:0000917)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Shield chest (HP:0000914)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Shield chest (HP:0000914)
Associated disease: LEOPARD SYNDROME 3 (OMIM:613707)
Gene: BRAF
Phenotype: Shield chest (HP:0000914)
Associated disease: NOONAN SYNDROME 7 (OMIM:613706)
Gene: BRAF
Phenotype: Shield chest (HP:0000914)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Pectus excavatum of inferior sternum (HP:0000915)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: BRAF
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: BRAF
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: BRAF
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Gene: BRAF
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRAF
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: BRAF
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRAF
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)