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Kleefstra syndrome due to a point mutation
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial pancreatic carcinoma
5 OMIM references -
8 associated genes
No signs/symptoms info
Kleefstra syndrome due to a point mutation
Familial pancreatic carcinoma

EHMT1
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
BRCA2
(UniProt - OMIM)
CDKN2A
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
MANF
(UniProt - OMIM)
PALB2
(UniProt - OMIM)
SMAD4
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EHMT1
(0.62)
TP53


Citations in the biomedical literature:


Kleefstra syndrome due to a point mutation
EHMT1
Familial pancreatic carcinoma
BRCA1 BRCA2 CDKN2A KRAS MANF PALB2
SMAD4 TP53



Kleefstra syndrome due to a point mutation
Familial pancreatic carcinoma

Synonym(s):
(no synonyms)

Synonym(s):
- Familial pancreatic cancer
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic 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:
No OMIM references
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: C535837
No signs/symptoms info available.