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
dbSNP: rs1236699193
rs1236699193
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555727841
rs1555727841
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs75068032
rs75068032
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs775267348
rs775267348
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs777751303
rs777751303
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		A 0.700 GeneticVariation CLINVAR