NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
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 A novel Notch1 missense mutation (C1133Y) in the Abruptex domain exhibits enhanced proliferation and invasion in oral squamous cell carcinoma. 29321718 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 PosttranslationalModification disease BEFREE Comparing with the alterations at 9q33 to 34.2 regions, LOH at 9q34.3 and methylation of the Notch1 gene was less involved in oral squamous cell carcinomas. 17305639 2007
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 2009
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE Expression and oncogenic properties of membranous Notch1 in oral leukoplakia and oral squamous cell carcinoma. 29620248 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 Biomarker disease BEFREE In contrast, marked Notch 1 staining was observed in extragenital Bowen's disease as well as in genital (penile) human papilloma virus-related in situ and invasive squamous cell carcinomas. 18192969 2008
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 CausalMutation disease CGI
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.600 AlteredExpression disease LHGDN 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 contrast, marked Notch 1 staining was observed in extragenital Bowen's disease as well as in genital (penile) human papilloma virus-related in situ and invasive squamous cell carcinomas. 18192969 2008