rs1387329667
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Deformity
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0.010 |
GeneticVariation
|
BEFREE |
An unreported missense mutation (P1964L) in the cytoplasmic domain, segregating with semilunar valve malformation, was maternally inherited and a rare missense mutation (P1256L) in the extracellular domain, clinically silent in the heterozygous state, was paternally inherited.
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26164125 |
2015 |
rs1387329667
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Congenital Abnormality
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0.010 |
GeneticVariation
|
BEFREE |
An unreported missense mutation (P1964L) in the cytoplasmic domain, segregating with semilunar valve malformation, was maternally inherited and a rare missense mutation (P1256L) in the extracellular domain, clinically silent in the heterozygous state, was paternally inherited.
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26164125 |
2015 |
rs139994842
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Nephrotic Syndrome
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0.010 |
GeneticVariation
|
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
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29356585 |
2018 |
rs139994842
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Alcohol or Other Drugs use
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0.010 |
GeneticVariation
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BEFREE |
Interestingly, the NOTCH1 gene rs139994842 that shares linkage with SMs is associated with HNSCC risk (OR = 3.46), increasing when SMs in NOTCH1 are involved (OR = 7.74), and furthermore when there are SMs in conjunction to betel quid chewing (OR = 32.11), which is a related independent environmental risk factor after adjusting for substances use (alcohol, betel quid, cigarettes) and age.
|
27035284 |
2016 |
rs139994842
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Squamous cell carcinoma of the head and neck
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0.010 |
GeneticVariation
|
BEFREE |
Interestingly, the NOTCH1 gene rs139994842 that shares linkage with SMs is associated with HNSCC risk (OR = 3.46), increasing when SMs in NOTCH1 are involved (OR = 7.74), and furthermore when there are SMs in conjunction to betel quid chewing (OR = 32.11), which is a related independent environmental risk factor after adjusting for substances use (alcohol, betel quid, cigarettes) and age.
|
27035284 |
2016 |
rs1442744764
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T-Cell Lymphoma
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0.010 |
GeneticVariation
|
BEFREE |
We detected a nonsense mutation, C7249T (resulting in Q2417X, where X is a termination codon) in the PEST domain of NOTCH1 in an ATL patient and detected a 3-bp deletion (positions 7234-7236) that resulted in deletion of a proline codon at codon 2412 in the PEST domain of NOTCH1 in a patient with a T-NHL, peripheral T-cell lymphoma-unspecified (PTCL-u).
|
17483057 |
2007 |
rs182330532
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Coronary heart disease
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0.010 |
GeneticVariation
|
BEFREE |
While in silico evidence and segregation analyses in the NOTCH1 p.Arg1279Cys variant are highly suggestive of pathogenicity, the minimal change in signalling capacity suggests that other variants may be required for CHD development.
|
27989580 |
2017 |
rs191645600
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Aortic Aneurysm
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0.010 |
GeneticVariation
|
BEFREE |
Of these, 2 novel missense mutations, A1343V and P1390T, were observed only in patients with bicuspid aortic valves and tricuspid aortic aneurysms.
|
17662764 |
2007 |
rs201620358
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Intestinal Atresia
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0.010 |
GeneticVariation
|
BEFREE |
The heterozygous c.2734C>T (p.Arg912Trp) NOTCH1 variant was found in the proband with "apple peel" intestinal atresia and in his father.
|
31111652 |
2019 |
rs3124591
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Nephrotic Syndrome
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0.010 |
GeneticVariation
|
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
rs3124591
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Invasive Ductal Breast Carcinoma
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0.010 |
GeneticVariation
|
BEFREE |
Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of development of invasive ductal breast carcinoma in a Chinese population.
|
25120811 |
2014 |
rs3124591
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Cardiomyopathy, Familial Idiopathic
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0.010 |
GeneticVariation
|
BEFREE |
Furthermore, given the inconsistent associations between </span>the rs3124591 variant and Notch1 expression in IDC</span> and DCIS, this variant may affect breast cancer risk through mechanisms in the latter stage other than alterations in Notch1 protein expression.
|
25120811 |
2014 |
rs3124591
|
|
Malignant neoplasm of breast
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|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, given the inconsistent associations between the rs3124591 variant and Notch1 expression in IDC and DCIS, this variant may affect breast cancer risk through mechanisms in the latter stage other than alterations in Notch1 protein expression.
|
25120811 |
2014 |
rs3124591
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Noninfiltrating Intraductal Carcinoma
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|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, given the inconsistent associations between the rs3124591</span> variant and Notch1 expression in IDC and DCIS, this variant may affect breast cancer risk through mechanisms in the latter stage other than alterations in Notch1 protein expression.
|
25120811 |
2014 |
rs3124591
|
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Breast Carcinoma
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|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, given the inconsistent associations between the rs3124591 variant and Notch1 expression in IDC and DCIS, this variant may affect breast cancer risk through mechanisms in the latter stage other than alterations in Notch1 protein expression.
|
25120811 |
2014 |
rs3124594
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Malignant neoplasm of lung
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|
0.010 |
GeneticVariation
|
BEFREE |
The results of survival analysis showed there was no significant association between SNPs and prognosis of lung cancer (P = 0.949 for rs3124599, P = 0.508 for rs3124607, P = 0.884 for rs3124594).
|
28415716 |
2017 |
rs3124594
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Primary malignant neoplasm of lung
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0.010 |
GeneticVariation
|
BEFREE |
The results of survival analysis showed there was no significant association between SNPs and prognosis of lung cancer (P = 0.949 for rs3124599, P = 0.508 for rs3124607, P = 0.884 for rs3124594).
|
28415716 |
2017 |
rs3124594
|
|
Carcinoma of lung
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|
0.010 |
GeneticVariation
|
BEFREE |
The results of survival analysis showed there was no significant association between SNPs and prognosis of lung cancer (P = 0.949 for rs3124599, P = 0.508 for rs3124607, P = 0.884 for rs3124594).
|
28415716 |
2017 |
rs3124599
|
|
Nephrotic Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05).
|
29356585 |
2018 |
rs3124599
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Small cell carcinoma of lung
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|
0.010 |
GeneticVariation
|
BEFREE |
In stratified analysis, the GG genotype of rs3124599 would increase the risk of small cell lung cancer (SCLC) (P = 0.011, OR = 2.167, 95% CI = 1.193-3.396).
|
28415716 |
2017 |
rs3124599
|
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Primary malignant neoplasm of lung
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|
0.010 |
GeneticVariation
|
BEFREE |
The results of survival analysis showed there was no significant association between SNPs and prognosis of lung cancer (P = 0.949 for rs3124599, P = 0.508 for rs3124607, P = 0.884 for rs3124594).
|
28415716 |
2017 |
rs3124599
|
|
Carcinoma of lung
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|
0.010 |
GeneticVariation
|
BEFREE |
The results of survival analysis showed there was no significant association between SNPs and prognosis of lung cancer (P = 0.949 for rs3124599, P = 0.508 for rs3124607, P = 0.884 for rs3124594).
|
28415716 |
2017 |
rs3124599
|
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results of survival analysis showed there was no significant association between SNPs and prognosis of lung cancer (P = 0.949 for rs3124599, P = 0.508 for rs3124607, P = 0.884 for rs3124594).
|
28415716 |
2017 |
rs3124607
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|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results of survival analysis showed there was no significant association between SNPs and prognosis of lung cancer (P = 0.949 for rs3124599, P = 0.508 for rs3124607, P = 0.884 for rs3124594).
|
28415716 |
2017 |
rs3124607
|
|
Carcinoma of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results of survival analysis showed there was no significant association between SNPs and prognosis of lung cancer (P = 0.949 for rs3124599, P = 0.508 for rs3124607, P = 0.884 for rs3124594).
|
28415716 |
2017 |