Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.110 GeneticVariation group BEFREE Association between polymorphisms of the HSPB7 gene and Cheyne-Stokes respiration with central sleep apnea in patients with dilated cardiomyopathy and congestive heart failure. 27441470 2016
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.110 GeneticVariation group GWASDB Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. 20975947 2010
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.070 GeneticVariation disease BEFREE Several mutations within HSPB7 are associated with dilated cardiomyopathy and heart failure in human patients. 29078393 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.070 Biomarker disease BEFREE Heat shock protein beta-7 (HSPB7) displayed differences in abundance in tissue and serum at an early stage of HF. 28973020 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.070 Biomarker disease BEFREE In the present study, we generated a cardiac-specific inducible HSPB7 knockout mouse and demonstrated that the loss of HSPB7 in cardiomyocytes results in rapid heart failure and sudden death. 28827800 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.070 GeneticVariation disease BEFREE Association between polymorphisms of the HSPB7 gene and Cheyne-Stokes respiration with central sleep apnea in patients with dilated cardiomyopathy and congestive heart failure. 27441470 2016
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.070 GeneticVariation disease BEFREE Of 51 exonic CLCNKA variants identified, one SNP (rs10927887, encoding Arg83Gly) was common, in linkage disequilibrium with the heart failure risk SNP in HSPB7, and associated with heart failure in two independent Caucasian referral populations (n = 2,606 and 1,168; combined P = 2.25 × 10(-6)). 21248228 2011
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.070 GeneticVariation disease BEFREE Two intronic single-nucleotide polymorphisms showed replicated associations with all-cause heart failure as follows: rs1739843 in HSPB7 (combined P=3.09x10(-6)) and rs6787362 in FRMD4B (P=6.09x10(-6)). 20124441 2010
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.070 GeneticVariation disease BEFREE These results establish the power and applicability of pooled resequencing for comparative SNP association analysis of target subgenomes in large populations and identify an association between multiple HSPB7 polymorphisms and heart failure. 20038796 2010
CUI: C0018801
Disease: Heart failure
Heart failure
0.060 GeneticVariation disease BEFREE Several mutations within HSPB7 are associated with dilated cardiomyopathy and heart failure in human patients. 29078393 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.060 Biomarker disease BEFREE In the present study, we generated a cardiac-specific inducible HSPB7 knockout mouse and demonstrated that the loss of HSPB7 in cardiomyocytes results in rapid heart failure and sudden death. 28827800 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.060 Biomarker disease BEFREE Heat shock protein beta-7 (HSPB7) displayed differences in abundance in tissue and serum at an early stage of HF. 28973020 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.060 GeneticVariation disease BEFREE Of 51 exonic CLCNKA variants identified, one SNP (rs10927887, encoding Arg83Gly) was common, in linkage disequilibrium with the heart failure risk SNP in HSPB7, and associated with heart failure in two independent Caucasian referral populations (n = 2,606 and 1,168; combined P = 2.25 × 10(-6)). 21248228 2011
CUI: C0018801
Disease: Heart failure
Heart failure
0.060 GeneticVariation disease BEFREE Two intronic single-nucleotide polymorphisms showed replicated associations with all-cause heart failure as follows: rs1739843 in HSPB7 (combined P=3.09x10(-6)) and rs6787362 in FRMD4B (P=6.09x10(-6)). 20124441 2010
CUI: C0018801
Disease: Heart failure
Heart failure
0.060 GeneticVariation disease BEFREE These results establish the power and applicability of pooled resequencing for comparative SNP association analysis of target subgenomes in large populations and identify an association between multiple HSPB7 polymorphisms and heart failure. 20038796 2010
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.040 GeneticVariation disease BEFREE We aimed to explore the prevalence of polymorphisms of the HSPB7 gene in the Chinese Han population with CSR-CSA and CHF caused by DCM. 27441470 2016
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.040 GeneticVariation disease BEFREE There was no difference in genotype or allele frequencies in ACTC1 or HSPB7 between DCM patients and control subjects. 23570452 2013
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.040 GeneticVariation disease BEFREE Three DCM-associated SNPs were confirmed by individual genotyping (P < 5.0 10(-7)), and two of them, rs10927875 and rs2234962, were replicated in independent samples (1165 DCM patients and 1302 controls), with P-values of 0.002 and 0.009, respectively. rs10927875 maps to a region on chromosome 1p36.13 which encompasses several genes among which HSPB7 has been formerly suggested to be implicated in DCM. 21459883 2011
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.040 GeneticVariation disease BEFREE The analysis revealed a significant association between a SNP in HSPB7 gene (rs1739843, minor allele frequency 39%) and idiopathic DCM (p = 1.06 × 10⁻⁶, OR  = 0.67 [95% CI 0.57-0.79] for the minor allele T).Three more SNPs showed p < 2.21 × 10⁻⁵. 20975947 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 PosttranslationalModification group BEFREE This study demonstrated that SRARP and HSPB7 are a gene pair located 5.2 kb apart on 1p36.13 and are inactivated by deletions and epigenetic silencing in malignancies. 29577611 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Importantly, SRARP and HSPB7 have tumor suppressor functions in clonogenicity and cell viability associated with the downregulation of Akt and ERK. 29577611 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.020 GeneticVariation group BEFREE Inhibiting autophagy caused FilaminC aggregation in HSPB7 mutant human cardiomyocytes and developmental cardiomyopathy in hspb7 mutant zebrafish embryos. 29331499 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.020 GeneticVariation group BEFREE Additionally, several single-nucleotide polymorphisms of HSPB7 have been identified to be associated with heart failure caused by cardiomyopathy in human patients. 28827800 2017