FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 Biomarker group BEFREE This systematic review protocol outlines the methods that will be used to assess the comparative effectiveness of different screening strategies (mass, targeted or opportunistic) for hypertension to reduce morbidity and mortality associated with hypertension. 30647046 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 Biomarker group BEFREE In <i>Bmpr2/1a</i> heterozygote mice, reduced PA fibrillin-1 was associated with elastic fiber susceptibility to degradation and more severe pulmonary hypertension. 28619995 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 GeneticVariation group BEFREE The patients with FBN1 mutations were younger, suffered from fewer risk factors such as hypertension and smoking, and were less gender partitioned than non-FBN1-mutation AD patients. 28973303 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 GeneticVariation group BEFREE The association of FBN1 genotypes with each phenotype of DPATA was assessed using logistic regression models adjusted for gender, age and hypertension. 25583878 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 GeneticVariation group BEFREE Here, we further investigate the association of four tagging SNPs (tagSNPs) which covered remain genetic variation blocks of FBN1 gene with hypertension, blood pressure and efficacy of antihypertensive in a South Han Chinese population. 24413999 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 GeneticVariation group BEFREE The G-A substitution in the fibrillin-1 gene (rs11856553) is a rare genetic variant that is associated with an increased risk of prevalent hypertension, particularly of moderate to severe prevalent hypertension. 22545955 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 Biomarker group BEFREE Physiological and morphological comparisons correlate elastin haploinsufficiency with increased blood pressure and vessel length and tortuosity in dHet mice, and fibrillin-1 haploinsufficiency with increased aortic diameter in the same mutant animals. 19850904 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 Biomarker group RGD To test the functional role of fibrillin-1, DOCA hypertension and STZ diabetes were induced in mice homozygous for a mutation leading to a fivefold lower expression of fibrillin-1 (mgR/mgR). 16380460 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.370 Biomarker group HPO