Cytoscape Web
Click node...

Kleefstra syndrome due to a point mutation
1 associated gene
23 connected diseases
No signs/symptoms info
Disease Type of connection
Kleefstra syndrome due to 9q34 microdeletion
Giant cell glioblastoma
Gliosarcoma
Anaplastic ependymoma
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Dedifferentiated liposarcoma
Dehydratase deficiency
Huntington disease
Isolated adermatoglyphia
Juvenile Huntington disease
Neurofibromatosis type 3
Spinocerebellar ataxia type 1
Well-differentiated liposarcoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Weaver syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
EHMT1 Q9H9B1607001
No signs/symptoms info available.