KEGG   VARIANT: 4854v1
Entry
4854v1                      Variant                                
Name
NOTCH3 mutation
Type
Loss of function
Gene
NOTCH3  notch receptor 3 [KO:K20995]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600276
Network
nt06511  NOTCH signaling
Disease
H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
H01757  Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
H01893  Lateral meningocele syndrome
H01910  Infantile myofibromatosis
Reference
PMID:28512196
  Authors
Masek J, Andersson ER
  Title
The developmental biology of genetic Notch disorders.
  Journal
Development 144:1743-1763 (2017)
DOI:10.1242/dev.148007
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