NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1323608032
rs1323608032
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs201680145
rs201680145
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606915
rs267606915
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28933696
rs28933696
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28933697
rs28933697
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28933698
rs28933698
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28937321
rs28937321
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs367543285
rs367543285
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs75068032
rs75068032
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs775267348
rs775267348
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs775836288
rs775836288
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs777751303
rs777751303
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs201680145
rs201680145
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C0751587
Disease:
CADASIL Syndrome 		A 0.720 CausalMutation CLINVAR
dbSNP: rs1057519101
rs1057519101
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs1236699193
rs1236699193
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1236699193
rs1236699193
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C3809084
Disease:
MYOFIBROMATOSIS, INFANTILE, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1236699193
rs1236699193
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C1851710
Disease:
LATERAL MENINGOCELE SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1313319587
rs1313319587
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs1328784046
rs1328784046
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs137852642
rs137852642
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4024918
Disease:
Recurrent subcortical infarcts 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555727841
rs1555727841
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C1851710
Disease:
LATERAL MENINGOCELE SYNDROME 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555727841
rs1555727841
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		T 0.700 GeneticVariation 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