Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rotator cuff syndrome
CUI: C0263912
Disease: Rotator cuff syndrome
0.010 GeneticVariation BEFREE In males, the A allele of COL5A1 rs3196378 (p = 0.032) and the G allele of TGFBR1 rs1590 (p = 0.039) were independent risk factors for RCT. 31444797 2020
Disorder of tendon
CUI: C0151936
Disease: Disorder of tendon
0.010 GeneticVariation BEFREE The TC inferred haplotype (rs12722, rs3196378) was found to be overrepresented (global p = 0.008) in the South African tendinopathy group compared with all other haplotypes. 18443036 2009
Tendinopathy
CUI: C1568272
Disease: Tendinopathy
0.010 GeneticVariation BEFREE The TC inferred haplotype (rs12722, rs3196378) was found to be overrepresented (global p = 0.008) in the South African tendinopathy group compared with all other haplotypes. 18443036 2009
Disorder of Achilles tendon
CUI: C3840085
Disease: Disorder of Achilles tendon
0.010 GeneticVariation BEFREE The BstUI RFLP (p<0.001) and marker rs3196378 (p = 0.016) were associated with chronic Achilles tendinopathy in Australian subjects. 18443036 2009