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: 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: 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: rs2376999
rs2376999
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs2277698
rs2277698
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our study indicated that TIMP-2 rs2277698 was associated with breast cancer susceptibility. 31088428 2019
dbSNP: rs4789936
rs4789936
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Bioinformatics analysis found that rs4789936 was likely to affect transcription factor binding, motifs, DNase footprint, and DNase peaks; and TIMP-2 was under-expressed in breast cancer, the risk allele of rs4789936 was associated with increased expression of TIMP-2 in peripheral blood samples. 31088428 2019
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: rs4789936
rs4789936
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE We observed the rs4789936 had a decreased risk of LAA stroke according to the codominant (OR = 0.64, 95% CI = 0.44-0.92, <i>P</i> = 0.026), dominant (OR = 0.62, 95% CI = 0.43-0.88, <i>P</i> = 0.008), overdominant (OR = 0.68, 95% CI = 0.48-0.98, <i>P</i> = 0.039), log-additive (OR = 0.68, 95% CI = 0.51-0.91, <i>P</i> = 0.009) models analyses. 29435135 2018
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: 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: 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: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0018802
Disease:
Congestive heart failure
0.010 GeneticVariation BEFREE In this study, 300 HF outpatients with reduced left ventricular ejection fraction and 304 healthy blood donors were genotyped for the 372 T > C polymorphism (Phe124Phe; rs4898) in the TIMP-1 gene and the -418 G > C polymorphism (rs8179090) in the TIMP-2 gene to investigate whether these polymorphisms are associated with HF susceptibility and prognosis. 29930267 2018
dbSNP: rs1973232
rs1973232
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C4317009
Disease:
Diverticular Diseases
A 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. 30177863 2018
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: rs2277698
rs2277698
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0752156
Disease:
Dural Arteriovenous Fistula
0.010 GeneticVariation BEFREE There was a weak difference in associations of tissue inhibitor of metalloproteinase (TIMP)-2 (rs2277698) gene polymorphism and DAVF patients subgrouped by CVR grading. 29431912 2018
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: 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: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0018801
Disease:
Heart failure
0.010 GeneticVariation BEFREE In this study, 300 HF outpatients with reduced left ventricular ejection fraction and 304 healthy blood donors were genotyped for the 372 T > C polymorphism (Phe124Phe; rs4898) in the TIMP-1 gene and the -418 G > C polymorphism (rs8179090) in the TIMP-2 gene to investigate whether these polymorphisms are associated with HF susceptibility and prognosis. 29930267 2018
dbSNP: rs11658743
rs11658743
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0595995
Disease:
Idiopathic scoliosis
0.010 GeneticVariation BEFREE The remaining two polymorphisms (rs2377005, rs11658743) showed no association with either clinical or radiographic IS characteristics. 31119800 2019
dbSNP: rs2277700
rs2277700
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0595995
Disease:
Idiopathic scoliosis
0.010 GeneticVariation BEFREE We identified four TIMP2 polymorphisms (rs11077401, rs2376999, rs2277700, and rs4789934) that were associated with a higher risk of the progressive IS form. 31119800 2019
dbSNP: rs2377005
rs2377005
Entrez Id: 7077;100653515
Gene Symbol: TIMP2;CEP295NL
TIMP2;CEP295NL
CUI: C0595995
Disease:
Idiopathic scoliosis
0.010 GeneticVariation BEFREE The remaining two polymorphisms (rs2377005, rs11658743) showed no association with either clinical or radiographic IS characteristics. 31119800 2019
dbSNP: rs4789934
rs4789934
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0595995
Disease:
Idiopathic scoliosis
0.010 GeneticVariation BEFREE We identified four TIMP2 polymorphisms (rs11077401, rs2376999, rs2277700, and rs4789934) that were associated with a higher risk of the progressive IS form. 31119800 2019
dbSNP: rs8179090
rs8179090
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
CUI: C0595995
Disease:
Idiopathic scoliosis
0.010 GeneticVariation BEFREE The influence of the G allele of the rs8179090 on the clinical course of IS has not yet been confirmed. 31119800 2019
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