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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
No signs/symptoms info
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Myelofibrosis with myeloid metaplasia

FBN1 CALR
JAK2
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FBN1
(0.52)
CALR



Citations in the biomedical literature:


Glaucoma - ectopia - microspherophakia - stiff joints - short stature
FBN1
Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2



Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Myelofibrosis with myeloid metaplasia

Synonym(s):
- Gemss syndrome

Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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

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

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Very frequent
- Autosomal dominant inheritance
- Glaucoma
- Lens dislocation / luxation / subluxation / ectopia lentis
- Short stature / dwarfism / nanism



Myelofibrosis with myeloid metaplasia

(no data available)