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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hypochondrogenesis
Granular corneal dystrophy type I

COL2A1 TGFBI


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.62)
TGFBI



Citations in the biomedical literature:


Hypochondrogenesis
COL2A1
Granular corneal dystrophy type I
TGFBI



Hypochondrogenesis
Granular corneal dystrophy type I

Synonym(s):
(no synonyms)

Synonym(s):
- Classic GCD
- Classic granular corneal dystrophy
- Corneal dystrophy Groenouw type I
- GCD1
- GCDI
- Granular corneal dystrophy type 1

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.