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: rs1109771
rs1109771
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0014544
Disease:
Epilepsy
0.010 GeneticVariation BEFREE Univariate analysis indicated that rs443198_TT and rs915895_AA genotypes both were significantly associated with hemorrhage and that an rs1109771_GG genotype was associated with epilepsy. 27231971 2017
dbSNP: rs111394117
rs111394117
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE For patients with AML, the increased risk of post-HSCT relapse was associated with the donor SNP of rs111394117 in the intron of NOTCH4 gene, and the recipient SNPs of rs213210 in the ring finger protein 1 (RING1) gene promoter, and rs17220087 and rs17213693 in the intron of HLA-DOB gene. 31551439 2019
dbSNP: rs115344853
rs115344853
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0008074
Disease:
Child Development Disorders, Pervasive
A 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: 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: rs115344853
rs115344853
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0036341
Disease:
Schizophrenia
A 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: 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: rs13215567
rs13215567
Entrez Id: 4855;63940
Gene Symbol: NOTCH4;GPSM3
NOTCH4;GPSM3
CUI: C0162701
Disease:
Polysomnography
A 0.700 GeneticVariation GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
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: 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: rs16869834
rs16869834
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 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: rs206016
rs206016
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE One haplotype (GTG) consisting of rs2071277, rs2071285 and rs206016 was associated with tuberculosis risk (p = .011). 31838262 2020
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: 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: rs2071277
rs2071277
Entrez Id: 4855
Gene Symbol: NOTCH4
NOTCH4
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE Ours is the first study implies that the G allele variants of rs2071277 and rs422951 in Notch4 influence susceptibility to tuberculosis in a Chinese population, suggesting that Notch signalling is involved in the pathogenesis of tuberculosis. 31838262 2020
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