TIMP2, TIMP metallopeptidase inhibitor 2, 7077

N. diseases: 404; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4789937
rs4789937
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C2700366
Disease:
Adiponectin Measurement
0.700 GeneticVariation GWASDB Adiponectin concentrations: a genome-wide association study. 20887962 2010
dbSNP: rs4789939
rs4789939
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0013312
Disease:
Dupuytren Contracture
0.700 GeneticVariation GWASCAT Wnt signaling and Dupuytren's disease. 21732829 2011
dbSNP: rs4789939
rs4789939
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C4082974
Disease:
Dupuytren's Disease
0.700 GeneticVariation GWASDB Wnt signaling and Dupuytren's disease. 21732829 2011
dbSNP: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE The single-nucleotide polymorphism SNP-418G/C (rs8179090) in the promoter region of the TIMP-2 gene was not associated with the occurrence of AIS. 21228746 2012
dbSNP: rs8179096
rs8179096
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C1837218
Disease:
Cleft palate, isolated
0.010 GeneticVariation BEFREE Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). 22730240 2012
dbSNP: rs8179096
rs8179096
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0158646
Disease:
Cleft palate with cleft lip
0.010 GeneticVariation BEFREE Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). 22730240 2012
dbSNP: rs8179096
rs8179096
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C2981150
Disease:
Uranostaphyloschisis
0.010 GeneticVariation BEFREE Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). 22730240 2012
dbSNP: rs8179096
rs8179096
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0008925
Disease:
Cleft Palate
0.010 GeneticVariation BEFREE Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). 22730240 2012
dbSNP: rs2277698
rs2277698
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0034067
Disease:
Pulmonary Emphysema
0.010 GeneticVariation BEFREE The TIMP2 rs2277698 SNP was associated with overall (p = 0.022) and paraseptal (p = 0.010) emphysema, as well as with FEV₁/FVC ratio (p = 0.035) and MEF50 (p = 0.008). 23734748 2013
dbSNP: rs3744790
rs3744790
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0341106
Disease:
Eosinophilic esophagitis
0.700 GeneticVariation GWASCAT Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. 25017104 2014
dbSNP: rs775066324
rs775066324
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C4525297
Disease:
Stage 0 Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs775066324
rs775066324
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C4525302
Disease:
Stage III Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs775066324
rs775066324
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C4525305
Disease:
Stage IV Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs775066324
rs775066324
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0235782
Disease:
Gallbladder Carcinoma
0.010 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs775066324
rs775066324
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0153452
Disease:
Malignant neoplasm of gallbladder
0.010 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs775066324
rs775066324
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C4525300
Disease:
Stage IIA Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs775066324
rs775066324
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C4525301
Disease:
Stage IIB Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800 2016
dbSNP: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800 2016
dbSNP: rs4789936
rs4789936
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0409959
Disease:
Osteoarthritis, Knee
0.010 GeneticVariation BEFREE In addition, in the over-dominant model, rs4789936 correlated with reduced risk of knee OA, adjusting for age and gender (OR = 0.69, 95%CI = 0.49-0.98, p = 0.036). 27901480 2017
dbSNP: rs7342880
rs7342880
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0409959
Disease:
Osteoarthritis, Knee
0.010 GeneticVariation BEFREE Finally, rs7342880 correlated with increased risk of knee OA in females. 27901480 2017
dbSNP: rs8176329
rs8176329
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The AG genotype in TIMP 2 rs8176329 polymorphism was found to be associated with higher risk of tumour (P = 0.01). 28662285 2017
dbSNP: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE Variant genotype (TT) for rs3918242 polymorphism and rs8179090 variant genotype are not associated with bladder cancer risk. rs3918242 genotype was significantly associated with tumor invasion. 28980922 2017
dbSNP: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE Variant genotype (TT) for rs3918242 polymorphism and rs8179090 variant genotype are not associated with bladder cancer risk. rs3918242 genotype was significantly associated with tumor invasion. 28980922 2017
dbSNP: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C1269955
Disease:
Tumor Cell Invasion
0.010 GeneticVariation BEFREE Tissues with rs3918242 variant genotype have shown increased MMP-9 expression. rs3918242 promoter polymorphism of MMP-9 is significantly associated with tumor invasion, however; there is no positive correlation between TIMP-2 rs8179090 promoter polymorphism variant frequency and invasion. 28980922 2017