FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033377
Disease: Ptosis
Ptosis
0.120 GeneticVariation disease BEFREE The organization of elastic fibres differs between controls and subsets of patients with rectal prolapse, and their importance for maintaining the structural and functional integrity of the pelvic floor has been demonstrated in transgenic mice, with animals which have a null mutation in fibulin-5 (Fbln5(i/i)) developing prolapse. 25891043 2015
CUI: C0033377
Disease: Ptosis
Ptosis
0.120 Biomarker disease BEFREE Both FIB-5 mRNA expression and FIB-5 staining intensity was significantly decreased in USL from women with uterine prolapse compared to women without prolapse {[(FIB-5 mean +/- SD mRNA relative units) 0.07 +/- 0.02 vs. 0.26 +/- 0.20, P = 0.02] and [Intensity score, median (range), 0(0-2) vs. 3(2-3), P = 0.002]}. 19862539 2010
CUI: C0033377
Disease: Ptosis
Ptosis
0.120 Biomarker disease HPO