Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Lattice corneal dystrophy type I

COL4A1 TGFBI


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A1
(0.52)
TGFBI



Citations in the biomedical literature:


Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
COL4A1
Lattice corneal dystrophy type I
TGFBI



Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Lattice corneal dystrophy type I

Synonym(s):
- HANAC syndrome
- Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Synonym(s):
- Biber-Haab-Dimmer dystrophy
- Classic lattice corneal dystrophy
- LCD1
- LCDI
- Lattice corneal dystrophy type 1

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.