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Genes (77)
Species:
human : 77 | |
| Human | MUC16 | 94025 | mucin 16, cell surface associated | This is th e first study to show that serum CA 125 is related to the presence and severity of heart failure and diastolic dysfunction in hypertrophic cardiomyopathy | | Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | Hypertrophic cardiomyopathy | | Human | MYLK2 | 85366 | myosin light chain kinase 2 | Hypertrophic cardiomyopathy | | Human | OBSCN | 84033 | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Studies suggest that the obscurin abnormality may be involved in the pathogenesis of hypertrophic cardiomyopathy | | Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | Hypertrophic cardiomyopathy | | Human | C20orf7 | 79133 | | Hypertrophic cardiomyopathy | | Human | ACE2 | 59272 | angiotensin I converting enzyme 2 | Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy | | Human | JPH2 | 57158 | junctophilin 2 | this is the first report on JPH2 mutation associated with hypertrophic cardiomyopathy Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy | | Human | MRPS22 | 56945 | mitochondrial ribosomal protein S22 | A mutation in the MRPS22 gene led to reduction of 12sRNA in fibroblasts and fatal neonatal hypertrophic cardiomyopathy & kidney tubulopathy Hypertrophic cardiomyopathy | | Human | MYOZ2 | 51778 | myozenin 2 | Two missense mutations, S48P substitution and I246M affecting highly conserved amino acids were linked to hereditary Hypertrophic cardiomyopathy characterized by early onset of symptoms, pronounced cardiac hypertrophy, and cardiac arrhythmias | | Human | PRKAG2 | 51422 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | The study describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities | | Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | Hypertrophic cardiomyopathy | | Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | Hypertrophic cardiomyopathy | | Human | BSCL2 | 26580 | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | Hypertrophic cardiomyopathy | | Human | MLYCD | 23417 | malonyl-CoA decarboxylase | Hypertrophic cardiomyopathy | | Human | SCO2 | 9997 | SCO2 cytochrome c oxidase assembly protein | Hypertrophic cardiomyopathy Mutations in the SCO2 gene are a cause of prenatal-onset hypertrophic cardiomyopathy Title:Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.|Association:Y|Conclusion:Not Found One novel SCO2 mutation has been identified in a patient with hypertrophic cardiomyopathy | | Human | TCAP | 8557 | titin-cap | TCAP mutations identified which are associated with hypertrophic cardiomyopathy | | Human | CSRP3 | 8048 | cysteine and glycine-rich protein 3 (cardiac LIM protein) | Study used linkage analysis and identified a CSRP3 missense mutation in a large German family affected by hypertrophic cardiomyopathy Mutations in the CRP3/MLP gene can cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) | | Human | VWF | 7450 | von Willebrand factor | In obstructive hypertrophic cardiomyopathy, VWF impairment is frequent and is closely and independently related to the magnitude of outflow obstruction | | Human | VCL | 7414 | vinculin | a vinculin missense mutation confers susceptibility to hypertrophic cardiomyopathy | | Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | Hypertrophic cardiomyopathy | | Human | TPM1 | 7168 | tropomyosin 1 (alpha) | Hypertrophic cardiomyopathy in hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, myocardial oxidative metabolism and FFA metabolism are increased and inversely related to LV hypertrophy at both the whole heart and regional level data illustrate that, in general, dilated cardiomyopathy and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposite effects on the Ca2+ affinity of reconstituted thin filaments Title:Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.|Association:Not Found|Conclusion:Mutations in genes encoding thin filament proteins are less prevalent in HCM than previously estimated. Patients with mutations in troponin T, troponin I, alpha-tropomyosin, and actin do not invariably present with any distinct clinical feature, thus limiting the utility of gene status for risk stratification or of clinical phenotype in guiding individual genetic screening at this time. the expression of the human Hypertrophic Cardiomyopathy Mutant Tropomyosin in transgenic Mice results in myocardial contractile dysfunction | | Human | TNNT2 | 7139 | troponin T type 2 (cardiac) | Hypertrophic cardiomyopathy results strongly suggest that Ile90Met, a novel mutation in the cTnT gene, is causative agent of hypertrophic cardiomyopathy in this Chinese family Troponin T mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy | | Human | TNNI3 | 7137 | troponin I type 3 (cardiac) | Gene mutations in cardiac troponin I occur in Australian families with hypertrophic cardiomyopathy with a prevalence higher than previously reported and may be associated with a clinically more malignant course Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility both hypertrophic cardiomyopathy and restrictive cardiomyopathy involving cardiac troponin I mutations share a common feature of increased Ca2+ sensitivity of cardiac myofilament | | Human | TNNC1 | 7134 | troponin C type 1 (slow) | Hypertrophic cardiomyopathy A hypertrophic cardiomyopathy susceptibility gene |
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