NOTCH1, notch 1, 4851

N. diseases: 389; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 GeneticVariation disease BEFREE Interaction Between Rare Variants in NOTCH1 and Betel Quid Chewing in Oral Squamous Cell Carcinoma. 28910158 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE A mutation in NOTCH1 ligand binding region detected in patients with oral squamous cell carcinoma reduces NOTCH1 oncogenic effect. 28791383 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease CTD_human Whole-Exome Sequencing Validates a Preclinical Mouse Model for the Prevention and Treatment of Cutaneous Squamous Cell Carcinoma. 27923803 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE Epidermal growth factor receptor inhibition reduces angiogenesis via hypoxia-inducible factor-1α and Notch1 in head neck squamous cell carcinoma. 25723392 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE We used small interfering RNA (siRNA) technology to down-regulate the expression of Notch1 in small cell lung carcinoma (SCLC) cells; H69AR and SBC-3, as well as in non-small cell lung carcinoma (NSCLC) cells; A549 adenocarcinoma (ADC) and H2170 squamous cell carcinoma (SCC). 24888228 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE Lysyl oxidase-like 2 represses Notch1 expression in the skin to promote squamous cell carcinoma progression. 25759215 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE Exome sequencing (n=50) and recurrence testing (n=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (USP9X, MLL4, ARID2, UNC13C and TRPM3), while some others are shared with HNSCC (for example, TP53, FAT1, CASP8, HRAS and NOTCH1). 24292195 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE This molecular circuitry may inform distinct cell fate decisions to Notch1 in epithelial tissues, where carcinomas such as SCC arise. 24525741 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 GeneticVariation disease BEFREE Common and complex Notch1 mutations in Chinese oral squamous cell carcinoma. 24277457 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 GeneticVariation disease BEFREE Downmodulation or loss-of-function mutations of the gene encoding NOTCH1 are associated with dysfunctional squamous cell differentiation and development of squamous cell carcinoma (SCC) in skin and internal organs. 24743148 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE Notch1 is a 5-fluorouracil resistant and poor survival marker in human esophagus squamous cell carcinomas. 23409141 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE In addition, Notch1 and Srcasm protein and transcript levels were decreased in human SCCs compared with nonlesional epidermis. 19934324 2010
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease LHGDN EGFR is a key negative regulator of Notch1 gene expression in primary human keratinocytes, intact epidermis and skin squamous cell carcinomas 18604200 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE Thus, whereas in UV-related squamous cell photocarcinogenesis Notch 1 downregulation could mirror a tumor suppressor function of the receptor, in sun-protected squamous cell carcinomas Notch 1 was upregulated. 18192969 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease BEFREE In a chemical genetics screen for small molecule activators of Notch signalling, we identified epidermal growth factor receptor (EGFR) as a key negative regulator of Notch1 gene expression in primary human keratinocytes, intact epidermis and skin squamous cell carcinomas (SCCs). 18604200 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease LHGDN in UV-related squamous cell photocarcinogenesis Notch 1 downregulation could mirror a tumor suppressor function of the receptor, in sun-protected squamous cell carcinomas Notch 1 was upregulated 18192969 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 CausalMutation disease CGI