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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
10 signs/symptoms
Trichothiodystrophy
Papilloma of choroid plexus

ERCC2 TP53
ERCC3
GTF2H5
MPLKIP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ERCC3
ERCC2
(0.89)
(0.88)
TP53
TP53



Citations in the biomedical literature:


Trichothiodystrophy
ERCC2 ERCC3 GTF2H5 MPLKIP
Papilloma of choroid plexus
TP53



Trichothiodystrophy
Papilloma of choroid plexus

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

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
No OMIM references
2 MeSH references: C536559 / D054463
External references:
1 OMIM reference -
1 MeSH reference: D020288

Papilloma of choroid plexus

Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus


Trichothiodystrophy

(no data available)