NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: ADAMS-OLIVER SYNDROME 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622063
rs864622063
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
dbSNP: rs587777735
rs587777735
Entrez Id: 4851;100616242
Gene Symbol: NOTCH1;MIR4673
NOTCH1;MIR4673
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		A 0.700 GeneticVariation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
dbSNP: rs1554728428
rs1554728428
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554729118
rs1554729118
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564191302
rs1564191302
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1564199476
rs1564199476
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777735
rs587777735
Entrez Id: 4851;100616242
Gene Symbol: NOTCH1;MIR4673
NOTCH1;MIR4673
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864622060
rs864622060
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		G 0.700 CausalMutation CLINVAR