Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation BEFREE Conclusions The SMAD3 SNP rs12901499 GA genotype and G variant may increase the risk of hip OA in Chinese Han patients. 29310478

2018

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation GWASCAT A common missense variant in the COL11A1 gene also associates with hip osteoarthritis (rs3753841, frequency 61%, P = 5.2 × 10<sup>-10</sup>, OR = 1.08, p.Pro1284Leu). 30374069

2018

Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 Biomarker HPO

Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation BEFREE A SNP (rs12901499) mapping to intron 1 of SMAD3 was associated with both knee and hip OA (P < 0.0022 and P < 0.021, respectively) in the discovery set. 20506137

2010

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation BEFREE Variants in the COL11A1 gene modify individual susceptibility to hip OA in the Han Chinese population. 27936936

2017

Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 Biomarker CTD_human Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069

2018

Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 AlteredExpression BEFREE Associations were observed between tissue non-specific alkaline phosphatase (TNAP), osteocalcin (OCN), TWIST1, TGFβ1, SMAD3 mRNA levels and mineral measures in OA against CTL. 22820497

2012

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 Biomarker BEFREE Progression study revealed potential effectiveness of serum COMP in predicting OA progression. 30391538

2019

Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation GWASCAT Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069

2018

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745

2019

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 Biomarker HPO

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation BEFREE Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. 28319091

2017

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 AlteredExpression BEFREE The latter SNP was subsequently found to be associated with hip OA whereas COMP expression appeared responsive to the OA pathophysiology in cartilage. 25057126

2014

Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745

2019

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation BEFREE A common missense variant in the COL11A1 gene also associates with hip osteoarthritis (rs3753841, frequency 61%, P = 5.2 × 10<sup>-10</sup>, OR = 1.08, p.Pro1284Leu). 30374069

2018

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 Biomarker CTD_human A common missense variant in the COL11A1 gene also associates with hip osteoarthritis (rs3753841, frequency 61%, P = 5.2 × 10<sup>-10</sup>, OR = 1.08, p.Pro1284Leu). 30374069

2018

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation BEFREE Colocalization analysis indicated sharing of genetic signals for hip shape and hip OA for the KLHDC5/PTHLH and COL11A1 loci. 29882636

2018

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation BEFREE Two SNPs in COL11A1 showed association with hip OA in the combined analysis: rs4907986 (P = 1.29 × 10(-5) , odds ratio [OR] 1.12, 95% confidence interval [95% CI] 1.06-1.17) and rs1241164 (P = 1.47 × 10(-5) , OR 0.82, 95% CI 0.74-0.89). 24757145

2014

Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 GeneticVariation BEFREE And the pooled results revealed significant association between SMAD3 rs12901499 polymorphism and both knee and hip OA (knee OA: OR 1.18, 95% CI 1.04-1.34; hip OA: OR 1.31, 95% CI 1.18-1.44). 30208919

2018

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 Biomarker CTD_human Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. 28319091

2017

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.440 Biomarker BEFREE COMP and FAC are specific biomarkers with potential utility in the diagnosis and management of FAI and hip OA, given their ability to differentiate between controls and patients with hip lesions. 30388026

2019

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.420 GeneticVariation BEFREE The discovery of a novel variant near the NCOA3 (nuclear receptor coactivator 3) gene associated with hip OA and the regulation of GDF5 gene by four transcription factors via the OA susceptibility locus rs143383 are among important findings in OA genetics. 25456297

2014

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.420 Biomarker BEFREE HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study. 30427934

2018

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
0.420 GeneticVariation BEFREE A SNP in the 5' UTR of GDF5 (+104T/C; rs143383) showed significant association (P = 1.8 x 10(-13)) with hip osteoarthritis in two independent Japanese populations. 17384641

2007