NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE These results emphasise the role of the NF1 gene in the pathogenesis of breast cancer and a need for active follow-up for breast cancer in women with NF1. 27931045 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE We also show that VAAST 2.0 outperforms KBAC, WSS, SKAT, and variable threshold (VT) using published case-control datasets for Crohn disease (NOD2), hypertriglyceridemia (LPL), and breast cancer (CHEK2). 23836555 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE These results indicate that spontaneous NF1 loss can drive breast cancer. 22851646 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE ATF-2 simultaneously binds to Oct-1, NF-I and breast cancer suppressor BRCA1 to activate transcription. 17700520 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE LOH in the tumor tissue of our case supports the role of the NF1 gene in the etiology of some cases of breast cancer. 15588864 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 AlteredExpression disease BEFREE Human breast cancer MDA-MB-231 cells fail to express the neurofibromin protein, lack its type I mRNA isoform and show accumulation of P-MAPK and activated Ras. 11566491 2001