Cytoscape Web
Click node...

3 associated genes
88 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Frontotemporal dementia with motor neuron disease
Myxoid / round cell liposarcoma
Juvenile amyotrophic lateral sclerosis
Osteogenesis imperfecta type 3
Autosomal dominant nonsyndromic intellectual deficit
Extraskeletal myxoid chondrosarcoma
Translocation renal cell carcinoma
X-linked distal arthrogryposis multiplex congenita
Anaplastic ependymoma
Peripheral resistance to thyroid hormones
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Hyperlipoproteinemia type 5
Melanoma of soft part
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Desmoid tumor
Fibronectin glomerulopathy
Hepatocellular carcinoma, childhood-onset
Estrogen resistance syndrome
17q11 microdeletion syndrome
46,XY partial gonadal dysgenesis
Acute infantile liver failure-multisystemic involvement syndrome
Autosomal agammaglobulinemia
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Cabezas syndrome
Charcot-Marie-Tooth disease type 4G
Combined immunodeficiency due to STK4 deficiency
Dedifferentiated liposarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Fuchs endothelial corneal dystrophy
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Pallister-Hall syndrome
Papillary or follicular thyroid carcinoma
Pitt-Hopkins syndrome
Precursor B-cell acute lymphoblastic leukemia
Primary sclerosing cholangitis
Pseudohypoaldosteronism type 2E
Rabson-Mendenhall syndrome
Weaver syndrome
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Young adult-onset Parkinsonism
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Hereditary pheochromocytoma-paraganglioma
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Omenn syndrome
Progeria-associated arthropathy
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- Fibromyxosarcoma
- Myxoid malignant fibrous histiocytoma

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

Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
CREB3L2 Q70SY1608834
FUS P35637137070
No signs/symptoms info available.