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Genes (61)
Species:
human : 61 | |
| Human | SLC25A5P8 | 392301 | solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8 | Impaired mitochondrial ADP/ATP transport and altered adenine nucleotide translocase (ANT) isoform expression characterized by enhanced ANT1 and decreased ANT2 expression have been implicated in the pathophysiology of dilated cardiomyopathy (DCM) | | Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 | Onset of dilated cardiomyopathy less than 3 years Dilated cardiomyopathy, early onset Dilated cardiomyopathy caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins The association of dilated cardiomyopathy with ataxia (DCMA) syndrome with a segment of 3q26.33 and the identification of a splice mutation in a novel gene DNAJC19 in DCMA patients | | Human | MYPN | 84665 | myopalladin | myopalladin gene is a new gene associated with dilated cardiomyopathy and observed mutations in 3-4% of cases in a population. of European descent | | Human | FKRP | 79147 | fukutin related protein | severe dilated cardiomyopathy requiring heart transplantation in a homozygous p.Leu276Ile mutation in Fukutin-related protein gene (FKRP) Three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy have C826A Fukutin-related protein mutation Dilated cardiomyopathy may be present (mild) | | Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | Dilated cardiomyopathy (less common) | | Human | CTNNA3 | 29119 | catenin (cadherin-associated protein), alpha 3 | gene localized on chromosome 10q21 and is 1,776 kb in length; mutation screening of all 18 exons of the CTNNA3 gene in a family showing dilated cardiomyopathy (DCM)linkage to the 10q21-q23 locus, however, has not detected any DCM-linked CTNNA3 mutations | | Human | DOLK | 22845 | dolichol kinase | | | Human | LDB3 | 11155 | LIM domain binding 3 | the D626N mutation of Cypher/ZASP increases the affinity of the LIM domain for protein kinase C, which may be related to pathogenesis of dilated cardiomyopathy | | Human | ABCC9 | 10060 | ATP-binding cassette, sub-family C (CFTR/MRP), member 9 | role of mutation in human dilated cardiomyopathy and effect on KATP channel gating | | Human | DNAJA3 | 9093 | DnaJ (Hsp40) homolog, subfamily A, member 3 | Dnaja3 is crucial for mitochondrial biogenesis through its chaperone activity on Polga and has a role in preventing dilated cardiomyopathy | | Human | TNFSF10 | 8743 | tumor necrosis factor (ligand) superfamily, member 10 | systemic upregulation of TRAIL in dilated cardiomyopathy patients and concomitant local upregulation of osteoprotegerin in the myocardium | | Human | TCAP | 8557 | titin-cap | Allelic disorder to dilated cardiomyopathy 1N (CMD1N, {607487}) | | Human | CSRP3 | 8048 | cysteine and glycine-rich protein 3 (cardiac LIM protein) | Mutations in the CRP3/MLP gene can cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) | | Human | ALMS1 | 7840 | Alstrom syndrome 1 | Dilated cardiomyopathy (infancy) | | Human | VCL | 7414 | vinculin | Same fundamental metavinculin mutation can yield either hypertrophic or dilated cardiomyopathic phenotype, underscoring a critical role for modifier genes and/or environmental stressors in cardiac remodeling | | Human | TTN | 7273 | titin | Titin mutations as the molecular basis for dilated cardiomyopathy Allelic disorder to a form of dilated cardiomyopathy (CMD1G, {604145}) | | Human | TPM1 | 7168 | tropomyosin 1 (alpha) | 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 | | Human | TP53 | 7157 | tumor protein p53 | Elevated p53 expression is associated with dysregulation of the ubiquitin-proteasome system in dilated cardiomyopathy | | Human | TNNT2 | 7139 | troponin T type 2 (cardiac) | | | Human | TNNC1 | 7134 | troponin C type 1 (slow) | kinetic analysis of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes A novel mutation in the cardiac Troponin C gene has been identified recently in a family with dilated cardiomyopathy development of dilated cardiomyopathy results from the poor anchoring of cTnI to cCTnC, with the resulting increase in the level of acto-myosin inhibition in agreement with physiological data | | Human | TNF | 7124 | tumor necrosis factor | The effects of TNF polymorphisms on the survival of Chagas' cardiomyopathy patients who progress to end-stage dilated cardiomyopathy is reported complement activation in the myocardium may contribute to the progression of dilated cardiomyopathy via TNF-alpha expression in cardiac myocytes TNF-alpha is widely distributed in the myocardium of patients with dilated cardiomyopathy.( | | Human | TMPO | 7112 | thymopoietin | A predicted Arg690Cys substitution within the LAP2 gene is implicated in the pathogenesis of genetic forms of dilated cardiomyopathy | | Human | TAZ | 6901 | tafazzin | Congenital dilated cardiomyopathy Mutations in the Xq28 gene G4.5 lead to dilated cardiomyopathy associated with ultrastructural changes in mitochodria of heart, liver and skeletal muscle | | Human | SCN5A | 6331 | sodium channel, voltage-gated, type V, alpha subunit | | | Human | RYR2 | 6262 | ryanodine receptor 2 (cardiac) | large genomic deletion in RYR2 leads to extended clinical phenotypes eg, sinoatrial node and atrioventricular node dysfunction, atrial fibrillation, atrial standstill, and dilated cardiomyopathy |
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