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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
2 associated genes
1 sign/symptom
Autosomal dominant keratitis
Familial hypospadias

PAX6 AR
MAMLD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PAX6
(0.87)
AR



Citations in the biomedical literature:


Autosomal dominant keratitis
PAX6
Familial hypospadias
AR MAMLD1



Autosomal dominant keratitis
Familial hypospadias

Synonym(s):
- Hereditary keratitis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital 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: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537022
External references:
4 OMIM references -
No MeSH references

Familial hypospadias

Very frequent
- Hypospadias / epispadias / bent penis



Autosomal dominant keratitis

(no data available)