Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation disease CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation disease CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation disease CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation disease CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Entrez Id: 574501
Gene Symbol: MIR499A
MIR499A
0.010 Biomarker disease BEFREE After transcoronary ablation of septal hypertrophy, muscle-enriched miRNAs (miR-1 and miR-133a) showed a steeper and earlier increase than cardiac-enriched miRNAs (miR-499 and miR-208b). 31159652 2019
Entrez Id: 79187
Gene Symbol: FSD1
FSD1
0.010 Biomarker disease BEFREE After transcoronary ablation of septal hypertrophy, muscle-enriched miRNAs (miR-1 and miR-133a) showed a steeper and earlier increase than cardiac-enriched miRNAs (miR-499 and miR-208b). 31159652 2019
Entrez Id: 100126336
Gene Symbol: MIR208B
MIR208B
0.010 Biomarker disease BEFREE After transcoronary ablation of septal hypertrophy, muscle-enriched miRNAs (miR-1 and miR-133a) showed a steeper and earlier increase than cardiac-enriched miRNAs (miR-499 and miR-208b). 31159652 2019
Entrez Id: 83856
Gene Symbol: FSD1L
FSD1L
0.010 Biomarker disease BEFREE After transcoronary ablation of septal hypertrophy, muscle-enriched miRNAs (miR-1 and miR-133a) showed a steeper and earlier increase than cardiac-enriched miRNAs (miR-499 and miR-208b). 31159652 2019
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.010 AlteredExpression disease BEFREE Maternal hepatic insulin sensitivity, maternal plasma free-fatty-acid concentration, and cord plasma insulin and leptin most strongly predicted decreased septal strain in OB+DM infants.ConclusionIBDMs have reduced septal function at 1 month in the absence of septal hypertrophy, which is associated with altered maternal and infant lipid and glucose metabolism. 28604759 2017
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
0.010 Biomarker disease BEFREE Cyr61 was rapidly released after occlusion of a septal branch in HOCM patients undergoing transcoronary ablation of septal hypertrophy. 29155984 2017
Entrez Id: 5972
Gene Symbol: REN
REN
0.010 Biomarker disease BEFREE Herein, we review the new and emerging therapeutics for hypertrophic cardiomyopathy, which include pharmacologic attenuation of sarcomeric calcium sensitivity, allosteric inhibition of cardiac myosin, myocardial metabolic modulation, and renin-angiotensin-aldosterone system inhibition, as well as structural intervention by percutaneous mitral valve plication and endocardial radiofrequency ablation of septal hypertrophy. 28856513 2017
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
0.010 GeneticVariation disease BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170 2016
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 GeneticVariation disease BEFREE HIF1A-upregulation and/or VEGFA-downregulation genotypes were associated with more severe septal hypertrophy and diastolic dysfunction and may provide genetic markers to improve risk prediction in HCM. 23007030 2012
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.010 GeneticVariation disease BEFREE HIF1A-upregulation and/or VEGFA-downregulation genotypes were associated with more severe septal hypertrophy and diastolic dysfunction and may provide genetic markers to improve risk prediction in HCM. 23007030 2012
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
0.010 Biomarker disease BEFREE Adrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in mice. 22076249 2012