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PROTEIN INTERACTIONS: 1
4 OMIM references -
5 associated genes
No signs/symptoms info
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Hereditary spherocytosis

BTK ANK1
ELF4 EPB42
SLC4A1
SPTA1
SPTB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTK
(0.68)
SPTA1



Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Hereditary spherocytosis
ANK1 EPB42 SLC4A1 SPTA1 SPTB



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Hereditary spherocytosis

Synonym(s):
(no synonyms)

Synonym(s):
- Minkowski-Chauffard disease

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
2 MeSH references: C536356 / D013103

No signs/symptoms info available.