NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: MYOFIBROMATOSIS, INFANTILE, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543285
rs367543285
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		0.800 GeneticVariation UNIPROT Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 23731542 2013
dbSNP: rs367543285
rs367543285
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		G 0.800 CausalMutation CLINVAR