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KEGG Pathway Report
Basic Info
| ID | hsa05414 |
|---|---|
| Name | Dilated cardiomyopathy |
| Description | Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure. |
| No. of Genes in ADHDgene | 23 |
| Source | Pathway by Database Search |
Pathway related genes in ADHDgene (count: 23)
Literature-origin genes (count: 4)
| Approved Symbol | Approved Name | Location | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| ADRB1 | adrenergic, beta-1-, receptor | 10q24-q26 | 2(0/2/0) |
| ITGA11 | integrin, alpha 11 | 15q22.3-q23 | 1(0/0/1) |
| ITGA1 | integrin, alpha 1 | 5q11.1 | 1(0/1/0) |
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12p13.3 | 1(0/1/0) |
Genes from other sources (count: 19)
| Approved Symbol | Approved Name | Location | Source |
|---|---|---|---|
| CACNG5 | calcium channel, voltage-dependent, gamma subunit 5 | 17q24 | Mapped by PBA pathway |
| RYR2 | ryanodine receptor 2 (cardiac) | 1q43 | Mapped by CNV; Mapped by PBA pathway |
| PLN | phospholamban | 6q22.1 | Mapped by significant region |
| CACNB4 | calcium channel, voltage-dependent, beta 4 subunit | 2q22-q23 | Mapped by PBA pathway |
| CACNG1 | calcium channel, voltage-dependent, gamma subunit 1 | 17q24 | Mapped by PBA pathway |
| CACNG2 | calcium channel, voltage-dependent, gamma subunit 2 | 22q13.1 | Mapped by PBA pathway |
| CACNG4 | calcium channel, voltage-dependent, gamma subunit 4 | 17q24 | Mapped by PBA pathway |
| DES | desmin | 2q35 | Mapped by significant region |
| CACNA1F | calcium channel, voltage-dependent, L type, alpha 1F subunit | Xp11.23 | Mapped by LD-proxy; Mapped by PBA pathway; Mapped by literature SNP |
| CACNB1 | calcium channel, voltage-dependent, beta 1 subunit | 17q21-q22 | Mapped by PBA pathway |
| CACNA2D1 | calcium channel, voltage-dependent, alpha 2/delta subunit 1 | 7q21-q22 | Mapped by PBA pathway |
| CACNB3 | calcium channel, voltage-dependent, beta 3 subunit | 12q13 | Mapped by PBA pathway |
| SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | 5q33-q34 | Mapped by CNV; Mapped by significant region |
| CACNB2 | calcium channel, voltage-dependent, beta 2 subunit | 10p12 | Mapped by PBA pathway |
| CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D subunit | 3p14.3 | Mapped by PBA pathway |
| ADCY4 | adenylate cyclase 4 | 14q11.2 | Mapped by significant region |
| LAMA2 | laminin, alpha 2 | 6q22-q23 | Mapped by CNV; Mapped by significant region |
| CACNA1S | calcium channel, voltage-dependent, L type, alpha 1S subunit | 1q32 | Mapped by PBA pathway |
| ITGA2 | integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) | 5q11.2 | Mapped by LD-proxy |