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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Anaplastic ependymoma
Spondyloperipheral dysplasia - short ulna

C11ORF95 COL2A1
RELA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RELA
(0.63)
COL2A1



Citations in the biomedical literature:


Anaplastic ependymoma
C11ORF95 RELA
Spondyloperipheral dysplasia - short ulna
COL2A1



Anaplastic ependymoma
Spondyloperipheral dysplasia - short ulna

Synonym(s):
- High-grade ependymoma

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535799

Spondyloperipheral dysplasia - short ulna

Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Cone epiphyses / epiphysis
- Metacarpal anomalies / Archibald's sign
- Metaphyseal anomaly
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Epiphyseal vertebral anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Pectus carinatum


Anaplastic ependymoma

(no data available)