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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Granular corneal dystrophy type I
Ehlers-Danlos syndrome type 7A

TGFBI COL1A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFBI
(0.63)
COL1A1



Citations in the biomedical literature:


Granular corneal dystrophy type I
TGFBI
Ehlers-Danlos syndrome type 7A
COL1A1



Granular corneal dystrophy type I
Ehlers-Danlos syndrome type 7A

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

Synonym(s):
- EDS VIIA

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease

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

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

Ehlers-Danlos syndrome type 7A

Very frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Autosomal dominant inheritance
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Muscle weakness / flaccidity
- Short stature / dwarfism / nanism
- Thin skin



Granular corneal dystrophy type I

(no data available)