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Distal 16p11.2 microdeletion syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Myelofibrosis with myeloid metaplasia
1 OMIM reference -
4 associated genes
No signs/symptoms info
Distal 16p11.2 microdeletion syndrome
Myelofibrosis with myeloid metaplasia

SH2B1
(UniProt - OMIM)
 CALR
(UniProt - OMIM)
JAK2
(UniProt - OMIM)
MPL
(UniProt - OMIM)
TET2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SH2B1
(0.97)
JAK2


Citations in the biomedical literature:


Distal 16p11.2 microdeletion syndrome
SH2B1
Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2



Distal 16p11.2 microdeletion syndrome
Myelofibrosis with myeloid metaplasia

Synonym(s):
- Distal del(16)(p11.2)
- Distal monosomy 16p11.2
Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine 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:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.