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: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.070 AlteredExpression disease BEFREE Gene levels of fibulin-5 and ITGβ1 in uterosacral ligaments increased with severity of POP in women with cervical elongation, while no correlation was observed in women with a normal cervix. 29600404 2019
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.070 GeneticVariation disease BEFREE Loss of the elastogenic organizer, fibulin-5 (FBLN5), leads to pelvic organ prolapse in mice. 31451729 2019
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.070 AlteredExpression disease BEFREE Real-Time PCR results showed a significant upregulation for extracellular matrix protein 1 (ECM1) and integrin beta 3 (ITGB3) and a significant downregulation for FBLN5 in POP group. 29729708 2018
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.070 Biomarker disease BEFREE Hence, we hypothesized that prolonged release of fibulin-5 may delay progression of POP. 29073153 2017
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.070 GeneticVariation disease BEFREE Current data provide, for the first time, strong evidence that common SNPs of the FBLN5 gene are associated with POP especially after pelvic floor injury. 24917111 2014
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.070 GeneticVariation disease BEFREE Mice deficient for the fibulin-5 gene (Fbln5(-/-)) develop pelvic organ prolapse (POP) due to compromised elastic fibers and upregulation of matrix metalloprotease (MMP)-9. 23437119 2013
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.070 AlteredExpression disease BEFREE For the first time, we show substantially decreased gene signal for production of SLRPs, regulators of collagen fiber assembly and impairment in elastic fiber assembly by down-regulation of fibulin-5 in POP. 19251763 2009