NOTCH4, notch receptor 4, 4855

N. diseases: 150; N. variants: 58
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3131296
rs3131296
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia
0.810 GeneticVariation BEFREE Our study failed to replicate the significant association between the NOTCH4 gene rs3131296 polymorphism and the risk for SZ. 25142293 2014
dbSNP: rs2071277
rs2071277
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0242383
Disease:
Age related macular degeneration
C 0.810 GeneticVariation GWASCAT Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10(-7), replication P =3.0 × 10(-4), combined P =1.3 × 10(-9), odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3-1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10(-8), replication P =3.8 × 10(-5), combined P =2.0 × 10(-11), OR = 1.3, 95% CI = 1.2-1.4). 22694956 2012
dbSNP: rs2071277
rs2071277
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0242383
Disease:
Age related macular degeneration
C 0.810 GeneticVariation GWASDB Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10(-7), replication P =3.0 × 10(-4), combined P =1.3 × 10(-9), odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3-1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10(-8), replication P =3.8 × 10(-5), combined P =2.0 × 10(-11), OR = 1.3, 95% CI = 1.2-1.4). 22694956 2012
dbSNP: rs2071277
rs2071277
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0242383
Disease:
Age related macular degeneration
0.810 GeneticVariation BEFREE Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10(-7), replication P =3.0 × 10(-4), combined P =1.3 × 10(-9), odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3-1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10(-8), replication P =3.8 × 10(-5), combined P =2.0 × 10(-11), OR = 1.3, 95% CI = 1.2-1.4). 22694956 2012
dbSNP: rs3131296
rs3131296
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia
0.810 GeneticVariation GWASDB Common variants at VRK2 and TCF4 conferring risk of schizophrenia. 21791550 2011
dbSNP: rs404860
rs404860
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0004096
Disease:
Asthma
A 0.810 GeneticVariation GWASCAT We observed the most significant association with adult asthma at rs404860 in the major histocompatiblity complex region (P = 4.07 × 10(-23)), which is close to rs2070600, a SNP previously reported for association with FEV(1)/FVC in genome-wide association studies for lung function. 21804548 2011
dbSNP: rs404860
rs404860
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0004096
Disease:
Asthma
A 0.810 GeneticVariation GWASDB We observed the most significant association with adult asthma at rs404860 in the major histocompatiblity complex region (P = 4.07 × 10(-23)), which is close to rs2070600, a SNP previously reported for association with FEV(1)/FVC in genome-wide association studies for lung function. 21804548 2011
dbSNP: rs404860
rs404860
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0004096
Disease:
Asthma
0.810 GeneticVariation BEFREE We observed the most significant association with adult asthma at rs404860 in the major histocompatiblity complex region (P = 4.07 × 10(-23)), which is close to rs2070600, a SNP previously reported for association with FEV(1)/FVC in genome-wide association studies for lung function. 21804548 2011
dbSNP: rs3131296
rs3131296
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia
G 0.810 GeneticVariation GWASDB Common variants conferring risk of schizophrenia. 19571808 2009
dbSNP: rs3131296
rs3131296
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia
G 0.810 GeneticVariation GWASCAT Common variants conferring risk of schizophrenia. 19571808 2009
dbSNP: rs3132935
rs3132935
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia
0.800 GeneticVariation GWASCAT A comprehensive family-based replication study of schizophrenia genes. 23894747 2013
dbSNP: rs3132935
rs3132935
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia
0.800 GeneticVariation GWASDB A comprehensive family-based replication study of schizophrenia genes. 23894747 2013
dbSNP: rs3134931
rs3134931
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C2698399
Disease:
Myeloperoxidase Measurement
T 0.800 GeneticVariation GWASDB Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. 23620142 2013
dbSNP: rs3134931
rs3134931
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C2698399
Disease:
Myeloperoxidase Measurement
T 0.800 GeneticVariation GWASCAT Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. 23620142 2013
dbSNP: rs2071278
rs2071278
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0577608
Disease:
C4 complement assay (procedure)
G 0.800 GeneticVariation GWASDB Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. 23028341 2012
dbSNP: rs2071278
rs2071278
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0577608
Disease:
C4 complement assay (procedure)
G 0.800 GeneticVariation GWASCAT Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. 23028341 2012
dbSNP: rs443198
rs443198
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036421
Disease:
Systemic Scleroderma
0.800 GeneticVariation GWASDB Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
dbSNP: rs443198
rs443198
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036421
Disease:
Systemic Scleroderma
0.800 GeneticVariation GWASCAT Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
dbSNP: rs443198
rs443198
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036421
Disease:
Systemic Scleroderma
0.800 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
dbSNP: rs715299
rs715299
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036202
Disease:
Sarcoidosis
0.710 GeneticVariation GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805 2012
dbSNP: rs715299
rs715299
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036202
Disease:
Sarcoidosis
0.710 GeneticVariation BEFREE We identified a novel sarcoidosis-associated locus, NOTCH4, that reached genome-wide significance in the combined AA samples (rs715299, P(AA-meta) = 6.51 × 10(-10)) and demonstrated the independence of this locus from others in the MHC region in the same sample. 22952805 2012
dbSNP: rs115344853
rs115344853
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia
A 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
dbSNP: rs138753323
rs138753323
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0149745
Disease:
Oral Ulcer
C 0.700 GeneticVariation GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 2019
dbSNP: rs3132947
rs3132947
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank. 31453325 2019
dbSNP: rs3132947
rs3132947
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0562350
Disease:
Hip circumference
0.700 GeneticVariation GWASCAT Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank. 31453325 2019