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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Pulverulent cataract
Hepatoerythropoietic porphyria

CRYBB1 UROD
CRYGC
GJA3
GJA8
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
(0.63)
UROD



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Hepatoerythropoietic porphyria
UROD



Pulverulent cataract
Hepatoerythropoietic porphyria

Synonym(s):
- Dusty cataract

Synonym(s):
- HEP

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D017121

Hepatoerythropoietic porphyria

Very frequent
- Autosomal dominant inheritance
- Hemolytic anemia
- Skin photosensitivity
- Thin skin



Pulverulent cataract

(no data available)