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: rs1236699193
rs1236699193
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		T 0.700 CausalMutation CLINVAR