rs1043994, NOTCH3

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
0.020 GeneticVariation BEFREE Altogether, 134 Finnish CADASIL patients with p.Arg133Cys mutation were analysed for possible associations between the apolipoprotein E (APOE) genotype, angiotensinogen (AGT) p.Met268Thr polymorphism or neutral p.Ala202Ala NOTCH3 polymorphism and earlier first-ever stroke or migraine. 25819272 2015
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
0.020 GeneticVariation BEFREE However, association analysis revealed significant association of the single nucleotide polymorphism (SNP) rs1043994 with migraine. 16426270 2006
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE In conclusion, the rs3815188 variant and rs1043994 variant of the Notch3 gene is associated with lung cancer risk in patients of Turkish origin. 30806291 2019
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE In conclusion, the rs3815188 variant and rs1043994 variant of the Notch3 gene is associated with lung cancer risk in patients of Turkish origin. 30806291 2019
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE In conclusion, the rs3815188 variant and rs1043994 variant of the Notch3 gene is associated with lung cancer risk in patients of Turkish origin. 30806291 2019
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.010 GeneticVariation BEFREE Altogether, 134 Finnish CADASIL patients with p.Arg133Cys mutation were analysed for possible associations between the apolipoprotein E (APOE) genotype, angiotensinogen (AGT) p.Met268Thr polymorphism or neutral p.Ala202Ala NOTCH3 polymorphism and earlier first-ever stroke or migraine. 25819272 2015
Invasive Ductal Breast Carcinoma
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811 2014
Noninfiltrating Intraductal Carcinoma
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811 2014