Cytoscape Web
Click node...

2 associated genes
266 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant nonsyndromic intellectual deficit
LEOPARD syndrome
Noonan syndrome
Cardiofaciocutaneous syndrome
Pilocytic astrocytoma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Familial isolated dilated cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial thoracic aortic aneurysm and aortic dissection
Early-onset autosomal dominant Alzheimer disease
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Autosomal agammaglobulinemia
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Cowden syndrome
Proteus syndrome
Precursor B-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial pancreatic carcinoma
MODY syndrome
Miller-Dieker syndrome
Juvenile myelomonocytic leukemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Retinitis pigmentosa
Fanconi anemia
Septo-optic dysplasia
Loeys-Dietz syndrome type 1
Hereditary breast and ovarian cancer syndrome
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Behavioral variant of frontotemporal dementia
Familial gastric cancer
Gastric linitis plastica
Progressive non-fluent aphasia
Semantic dementia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
SHORT syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Complete androgen insensitivity syndrome
Familial hypospadias
Fuchs endothelial corneal dystrophy
Kennedy disease
Pallister-Hall syndrome
Partial androgen insensitivity syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Split hand-split foot malformation
46,XX gonadal dysgenesis
Hyperparathyroidism - jaw tumor syndrome
Parathyroid carcinoma
Chronic myeloid leukemia
EEM syndrome
Hypotrichosis with juvenile macular degeneration
Axenfeld anomaly
Axenfeld-Rieger syndrome
Familial atrial fibrillation
Peters anomaly
Rieger anomaly
Ring dermoid of cornea
Aneurysm - osteoarthritis syndrome
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Uveal coloboma - cleft lip and palate - intellectual deficit
Zonular cataract
Familial papillary renal cell carcinoma
Autosomal recessive axonal neuropathy with neuromyotonia
Huntington disease
Juvenile Huntington disease
Lethal acantholytic epidermolysis bullosa
Naxos disease
T-B+ severe combined immunodeficiency due to CD45 deficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Acute megakaryoblastic leukemia without Down syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Juvenile autosomal recessive medullary cystic kidney disease
Multiple endocrine neoplasia type 1
Zollinger-Ellison syndrome
Acute promyelocytic leukemia
Costello syndrome
Extraskeletal Ewing sarcoma
Familial renal cell carcinoma
Hyperinsulinism due to HNF4A deficiency
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Weaver syndrome
X-linked Emery-Dreifuss muscular dystrophy
Coffin-Siris syndrome
Familial rhabdoid tumor
Childhood absence epilepsy
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Juvenile myoclonic epilepsy
Charcot-Marie-Tooth disease type 4D
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Alobar holoprosencephaly
Branchio-oculo-facial syndrome
Estrogen resistance syndrome
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary nonpolyposis colon cancer
Inherited acute myeloid leukemia
Lobar holoprosencephaly
Marfan syndrome type 2
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Myhre syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
17p13.3 microduplication syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Distal 17p13.3 microdeletion syndrome
Frontotemporal dementia with motor neuron disease
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Juvenile amyotrophic lateral sclerosis
Myxoid / round cell liposarcoma
Obesity due to prohormone convertase I deficiency
Usher syndrome type 1
Williams syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Scalp-ear-nipple syndrome
Holt-Oram syndrome
Chondrodysplasia, Blomstrand type
Dental ankylosis
Eiken syndrome
Familial vesicoureteral reflux
Metaphyseal chondrodysplasia, Jansen type
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Occipital encephalocele
2q37 microdeletion syndrome
Acute necrotizing encephalopathy of childhood
Alveolar rhabdomyosarcoma
Anaplastic ependymoma
Anophthalmia / microphthalmia - esophageal atresia
Atelosteogenesis type I
Atelosteogenesis type III
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant secondary polycythemia
Autosomal recessive Emery-Dreifuss muscular dystrophy
Boomerang dysplasia
Charcot-Marie-Tooth disease type 2B1
Colobomatous microphthalmia
Congenital muscular dystrophy due to LMNA mutation
Dedifferentiated liposarcoma
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Familial acute necrotizing encephalopathy
Familial congenital palsy of trochlear nerve
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial infantile bilateral striatal necrosis
Familial isolated congenital asplenia
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Growth delay due to insulin-like growth factor I resistance
Hartsfield-Bixler-Demyer syndrome
Heart-hand syndrome, Slovenian type
Herpetic encephalitis
Hutchinson-Gilford progeria syndrome
Hyperinsulinism due to HNF1A deficiency
Inflammatory myofibroblastic tumor
Inherited congenital spastic tetraplegia
Isolated anophthalmia - microphthalmia
Isolated trigonocephaly
Kallmann syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Lissencephaly due to TUBA1A mutation
Mandibuloacral dysplasia with type A lipodystrophy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Multiple paragangliomas associated with polycythemia
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia - cancer predisposition syndrome
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Progeria-associated arthropathy
Pseudohypoaldosteronism type 2E
Spinocerebellar ataxia type 18
Spondylocarpotarsal synostosis
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Translocation renal cell carcinoma
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Young adult-onset Parkinsonism
B-cell chronic lymphocytic leukemia
Familial advanced sleep-phase syndrome
Mantle cell lymphoma
Multiple myeloma
Monosomy 5p
Neurofibromatosis type 2
Neurofibromatosis type 3
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive primary microcephaly
Autoimmune lymphoproliferative syndrome with recurrent infections
Clear cell renal carcinoma
Distal 22q11.2 microdeletion syndrome
Familial capillary hemangioma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Multiple keratoacanthoma, Ferguson-Smith type
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Townes-Brocks syndrome
Waardenburg syndrome type 2
X-linked distal arthrogryposis multiplex congenita
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Bannayan-Riley-Ruvalcaba syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Donnai-Barrow syndrome
Heritable pulmonary arterial hypertension
Hypotrichosis simplex
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Limited cutaneous systemic sclerosis
Macrocephaly-autism syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
1 MeSH reference: D003397

Gene symbol UniProt reference OMIM reference
BRAF P15056164757
CTNNB1 P35222116806
No signs/symptoms info available.