Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.070 GeneticVariation BEFREE We transfected these contructs into the COS-1 or MCT cells, and the results revealed that the HOA-related matrilin-3 mutation (T298M) leads to a high expression level of growth arrest DNA damage-inducible gene 153 (GADD153, also known as CHOP; an endoplasmic reticulum stress marker), as shown by western blot analysis and does not significantly affect protein secretion, as shown by immunofluorescence staining; however, osteochondroplasia, i.e., MED-related (R116W) and SEMD-related (C299S) mutations lead to both high levels of GADD153 expression and protein trafficking into the cytoplasm and form multiple vacuoles in cells, which in turn leads to insufficient protein secretion. 26499313

2015

Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.070 GeneticVariation BEFREE The T303M polymorphism of the MATN3 gene, which was initially described as associated with hand osteoarthritis, may be more closely linked to trapeziometacarpal osteoarthritis than to digital osteoarthritis. 20971668

2011

Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.070 GeneticVariation BEFREE Seven polymorphisms in the matrilin-3(MATN3) gene were previously tested for genetic association with hand osteoarthritis in an Icelandic cohort. 16396979

2006

Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.070 GeneticVariation BEFREE Patients carrying the T(303)M mutation in the gene for matrilin-3 express a form of HOA that is radiologically indistinguishable from idiopathic HOA in individual patients but they have more severe thumb-base involvement, particularly in the STT joint. 16641049

2006

Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.070 GeneticVariation BEFREE Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. 16199550

2005

Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.070 GeneticVariation BEFREE However, mutations in matrilin-3 in humans cause different forms of chondrodysplasias and perhaps also hand osteoarthritis. 15943978

2005

Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.070 GeneticVariation BEFREE Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. 12736871

2003

Entrez Id: 3553
Gene Symbol: IL1B
IL1B
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.040 Biomarker BEFREE Phase IIa, placebo-controlled, randomised study of lutikizumab, an anti-interleukin-1α and anti-interleukin-1β dual variable domain immunoglobulin, in patients with erosive hand osteoarthritis. 30552176

2019

Entrez Id: 3553
Gene Symbol: IL1B
IL1B
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.040 GeneticVariation BEFREE A total of 259 HOA patients with total hip replacement (THR) and 518 healthy blood donors as controls were genotyped for IL1B gene SNP -511(G>A) and the VNTR in the IL1RN gene associated with HOA. 21671260

2011

Entrez Id: 3553
Gene Symbol: IL1B
IL1B
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.040 GeneticVariation BEFREE Potential influence of IL1B haplotype and IL1A-IL1B-IL1RN extended haplotype on hand osteoarthritis risk. 17532232

2007

Entrez Id: 3553
Gene Symbol: IL1B
IL1B
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.040 GeneticVariation BEFREE Association of erosive hand osteoarthritis with a single nucleotide polymorphism on the gene encoding interleukin-1 beta. 12801479

2003

Entrez Id: 152100
Gene Symbol: CMC1
CMC1
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.030 Biomarker BEFREE To explore whether ultrasound-detected grey-scale synovitis and power Doppler activity in the interphalangeal and 1<sup>st</sup> carpometacarpal (CMC-1) joints is associated with pain and physical function in patients with hand osteoarthritis (OA). 31421023

2019

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.030 Biomarker BEFREE Analysis of the probabilistic index further revealed that CPII can distinguish between Bouchard's OA and premenopausal controls whereas COMP can discriminate between Bouchard's and Heberden's OA. 31561460

2019

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.030 Biomarker BEFREE Correction to: Intramuscular clodronate in erosive osteoarthritis of the hand is effective on pain and reduces serum COMP: a randomized pilot trial-The ER.O.D.E. study (ERosive Osteoarthritis and Disodium-clodronate Evaluation). 29623591

2018

Entrez Id: 152100
Gene Symbol: CMC1
CMC1
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.030 Biomarker BEFREE Six thousand three hundred forty three photographs (from 3676 females and 2667 males aged 40-96) were scored for hand osteoarthritis by a 0-3 grade (0 = no evidence of OA, 1 = possible OA, 2 = definite OA and 3 = severe OA) for each of the three main sites, distal interphalangeal joints (DIP), proximal interphalangeal joints (PIP) and thumb base (CMC1). 29197369

2017

Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.030 Biomarker BEFREE Intramuscular clodronate in erosive osteoarthritis of the hand is effective on pain and reduces serum COMP: a randomized pilot trial-The ER.O.D.E. study (ERosive Osteoarthritis and Disodium-clodronate Evaluation). 28536825

2017

Entrez Id: 152100
Gene Symbol: CMC1
CMC1
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.030 GeneticVariation BEFREE With respect to the CMC1 OA group, two SNPs in IL-4 (rs2243250 and rs2243274) showed association with a P-value of 0.027 and 0.018 respectively. 20219689

2010

Entrez Id: 1401
Gene Symbol: CRP
CRP
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.020 AlteredExpression BEFREE Secondary outcomes were pain and functioning (Australian/Canadian Hand Osteoarthritis Index; AUSCAN), quality of life (Short Form Health Survey; SF36) and inflammatory outcomes: erythrocyte sedimentation rate and C-reactive protein serum levels, effusion, synovial thickening and power Doppler signal on ultrasound (range 0-3). 30231990

2018

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.020 GeneticVariation BEFREE TNF inhibitor treatment is associated with a lower risk of hand osteoarthritis progression in rheumatoid arthritis patients after 10 years. 29471377

2018

Entrez Id: 8854
Gene Symbol: ALDH1A2
ALDH1A2
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.020 AlteredExpression BEFREE The expression of ALDH1A2 and of several retinoic acid signaling genes was different in diseased cartilage compared to non-diseased cartilage, with ALDH1A2 showing lower levels in OA cartilage. 29732726

2018

Entrez Id: 4256
Gene Symbol: MGP
MGP
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.020 Biomarker BEFREE Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand. 28855172

2017

Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.020 GeneticVariation BEFREE There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the carriage of the minor allele of either of these SNPs was associated with an increased risk of symptomatic DIP OA (2.1, 1.3-2.5). 24825461

2014

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.020 GeneticVariation BEFREE Variations in the TNFα gene and their interactions with the IL4R and IL10 genes in relation to hand osteoarthritis. 25252624

2014

Entrez Id: 100188011
Gene Symbol: DIP
DIP
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.020 GeneticVariation BEFREE We found an interaction between ESR1 (rs9340799) and occupation: teachers with the minor allele were at an increased risk of symptomatic DIP OA (2.8, 1.3-6.5). 24825461

2014

Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
0.020 GeneticVariation BEFREE Of the SNPs, rs716508 in A2BP1 was associated with ROA (OR = 0.7, 95% CI 0.5-0.9) and rs1800470 in TGFB1 with symptomatic DIP OA (1.8, 1.2-2.9). 24825461

2014