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: 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: 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: 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: 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: 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 GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
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: 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: rs115695709
rs115695709
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0201899
Disease:
Aspartate aminotransferase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs115963308
rs115963308
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0008074
Disease:
Child Development Disorders, Pervasive 		0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs115963308
rs115963308
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs147499485
rs147499485
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs206015
rs206015
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs206015
rs206015
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs206015
rs206015
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs206015
rs206015
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
dbSNP: rs206016
rs206016
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs2071277
rs2071277
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs2071278
rs2071278
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs2071285
rs2071285
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs2071286
rs2071286
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0010403
Disease:
Cryoglobulinemia 		0.700 GeneticVariation GWASCAT Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis. 25030430 2014
dbSNP: rs2071286
rs2071286
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036421
Disease:
Systemic Scleroderma 		0.700 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010