LUM, lumican, 4060

N. diseases: 123; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027092
Disease: Myopia
Myopia
0.030 Biomarker disease BEFREE These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. 29760442 2018
CUI: C0027092
Disease: Myopia
Myopia
0.030 Biomarker disease BEFREE Understanding the functions of LUM in myopia helps us design new methods in treating and preventing myopia. 20010793 2010
CUI: C0027092
Disease: Myopia
Myopia
0.030 GeneticVariation disease BEFREE Haplotype-specific tests showed that the C-C and T-C haplotypes were associated significantly with high myopia, with odds ratios (95% confidence intervals) of 19.32 (2.55-146.54) and 0.69 (0.46-1.04), respectively. rs3759223 and rs3741834 are in a putative regulatory element of the lumican gene, which influences fibrillogenesis of scleral collagen fibers and the development of myopia. 19616852 2009