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Anaplastic ependymoma
2 associated genes
158 connected diseases
No signs/symptoms info
Disease Type of connection
Acute promyelocytic leukemia
Giant cell glioblastoma
Hereditary breast and ovarian cancer syndrome
Familial pancreatic carcinoma
Split hand-split foot malformation
Acute infantile liver failure-multisystemic involvement syndrome
Translocation renal cell carcinoma
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Amyotrophic lateral sclerosis
Weaver syndrome
Glucocorticoid resistance
Hypohidrotic ectodermal dysplasia with immunodeficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Common variable immunodeficiency
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Autosomal dominant hyper-IgE syndrome
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Multiple endocrine neoplasia type 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Zollinger-Ellison syndrome
Ethylmalonic encephalopathy
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Spinocerebellar ataxia type 17
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Myxoid / round cell liposarcoma
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Estrogen resistance syndrome
Isolated brachycephaly
Isolated scaphocephaly
Saethre-Chotzen syndrome
Herpetic encephalitis
X-linked dystonia-parkinsonism
Burkitt lymphoma
Catecholaminergic polymorphic ventricular tachycardia
Precursor T-cell acute lymphoblastic leukemia
Chronic granulomatous disease
Lennox-Gastaut syndrome
12q14 microdeletion syndrome
Berardinelli-Seip congenital lipodystrophy
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Dyskeratosis congenita
Familial melanoma
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Idiopathic pulmonary fibrosis
17q11 microdeletion syndrome
Autosomal dominant severe congenital neutropenia
Benign familial chorea
Brain-lung-thyroid syndrome
Papillary or follicular thyroid carcinoma
Thyroid hypoplasia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Baraitser-Winter syndrome
Congenital fibrosis of extraocular muscles
Distal myopathy with vocal cord weakness
Familial partial lipodystrophy associated with PPARG mutations
Inflammatory myofibroblastic tumor
Isolated ATP synthase deficiency
Kostmann syndrome
Lissencephaly due to TUBA1A mutation
Mandibulofacial dysostosis-microcephaly syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Polymicrogyria due to TUBB2B mutation
Pulverulent cataract
Severe X-linked mitochondrial encephalomyopathy
Severe combined immunodeficiency due to DNA-PKcs deficiency
X-linked Charcot-Marie-Tooth disease type 4
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
5q35 microduplication syndrome
ADULT syndrome
Achondrogenesis type 2
Aneurysm - osteoarthritis syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Aromatic L-amino acid decarboxylase deficiency
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant rhegmatogenous retinal detachment
Autosomal recessive limb-girdle muscular dystrophy type 2G
Beckwith-Wiedemann syndrome due to NSD1 mutation
Bladder exstrophy
Cerebellar ataxia - hypogonadism
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Czech dysplasia, metatarsal type
Desmoid tumor
EEC syndrome
Familial avascular necrosis of femoral head
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hepatocellular carcinoma, childhood-onset
Hereditary hemorrhagic telangiectasia
Hypomyelination with atrophy of basal ganglia and cerebellum
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immunodeficiency due to an early component of complement deficiency
Intermediate nemaline myopathy
Intrahepatic cholestasis of pregnancy
Keratosis follicularis spinulosa decalvans
Kniest dysplasia
Legg-Calvé-Perthes disease
Limb-mammary syndrome
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Myhre syndrome
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Precursor B-cell acute lymphoblastic leukemia
Primary dystonia, DYT4 type
Severe congenital nemaline myopathy
Sotos syndrome
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Typical nemaline myopathy
Autosomal recessive nonsyndromic intellectual deficit
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Chronic mucocutaneous candidiasis
Combined cervical dystonia
Granulomatosis with polyangiitis
Intellectual deficit - sparse hair - brachydactyly
Mantle cell lymphoma
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Solitary fibrous tumor
Susceptibility to viral and mycobacterial infections
X-linked agammaglobulinemia
Adult hypophosphatasia
Childhood-onset hypophosphatasia
Infantile hypophosphatasia
Perinatal lethal hypophosphatasia
Prenatal benign hypophosphatasia
- High-grade ependymoma

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

Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
C11ORF95 C9JLR9615699
RELA Q04206164014
No signs/symptoms info available.