eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dilated cardiomyopathy | ||||
| Disease ID | 102 |
|---|---|
| Disease | dilated cardiomyopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:99) C2712322 | tachycardia C2697417 | pheochromocytoma C2108112 | ventricular fibrillation C2041142 | left bundle branch block C2004489 | regurgitation C1963220 | pulmonary hypertension C1963158 | left ventricular diastolic dysfunction C1963138 | hypertension C1962971 | myocarditis C1959583 | myocardial failure C1956346 | coronary artery disease C1861171 | activated protein c resistance C1704212 | embolism C1550639 | fistula C1521999 | acute myocardial infarction C1510420 | cavities C1392034 | cardiosclerosis C1281998 | refractory heart failure C0948600 | organ failure C0917996 | cerebral aneurysms C0878544 | myocardial disorders C0876998 | intracardiac thrombus C0876998 | cardiac thrombosis C0876993 | ventricular thrombosis C0865681 | chronic myocarditis C0750197 | sustained ventricular tachycardia C0741916 | cardiac defects C0741299 | atrial thrombus C0741275 | atrial dysfunction C0587044 | left ventricular thrombus C0587044 | left ventricular thrombosis C0521533 | atrial septal aneurysm C0520680 | central sleep apnea syndrome C0520679 | obstructive sleep apnoea C0520679 | obstructive sleep apnea C0517555 | venous thrombosis C0406723 | gapo syndrome C0392464 | ventricular aneurysm C0340517 | atrial thrombosis C0340369 | functional mitral regurgitation C0302148 | thrombus C0278961 | arrhythmias requiring therapy C0276651 | aspergilloma C0265971 | acrokeratosis verruciformis of hopf C0264915 | complete left bundle branch block C0264886 | conduction disorders C0264886 | conduction defects C0264732 | cardiac dilatation C0264722 | chronic congestive heart failure C0264716 | chronic heart failure C0264714 | acute heart failure C0264686 | coronary embolism C0238705 | left atrial enlargement C0238421 | selenium deficiency C0235527 | right ventricular failure C0232306 | left ventricular hypertrophy C0232305 | right ventricular hypertrophy C0232197 | fibrillation C0231807 | exertional dyspnea C0221002 | primary hyperparathyroidism C0162871 | abdominal aortic aneurysm C0162429 | malnutrition C0087086 | thrombi C0085655 | polymyositis C0085273 | parvovirus b19 infection C0079474 | recessive dystrophic epidermolysis bullosa C0042769 | virus infection C0040961 | tricuspid valve regurgitation C0040128 | thyroid disorders C0040038 | thromboembolism C0039070 | syncope C0038454 | cerebral infarction C0027059 | myocardial inflammation C0026266 | mitral valve regurgitation C0026266 | mitral valve insufficiency C0026266 | mitral regurgitation C0026266 | mitral insufficiency C0025517 | metabolic disease C0023212 | left ventricular failure C0019158 | hepatitis C0018817 | atrial septal defect C0018802 | congestive heart failure C0018801 | heart failure C0018801 | cardiac failure C0014117 | endocardial fibroelastosis C0010246 | coxsackie virus infection C0010073 | coronary spasm C0010068 | coronary disease C0009324 | ulcerative colitis C0009171 | cocaine abuse C0008732 | chylous ascites C0007959 | charcot-marie-tooth disease C0007570 | celiac disease C0007192 | alcoholic cardiomyopathy C0007177 | cardiac tamponade C0004623 | bacterial infection C0004610 | bacteremia C0004364 | autoimmune diseases C0003872 | psoriatic arthritis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:39) C0018801 | heart failure | 120 C0018802 | congestive heart failure | 23 C0232605 | regurgitation | 15 C0026266 | mitral regurgitation | 15 C0027059 | myocarditis | 14 C0340369 | functional mitral regurgitation | 13 C0264716 | chronic heart failure | 12 C0039231 | tachycardia | 10 C0087086 | thrombi | 8 C0018801 | cardiac failure | 8 C0007570 | celiac disease | 8 C0040053 | thrombus | 6 C0264886 | conduction defects | 6 C0023211 | left bundle branch block | 4 C0031511 | pheochromocytoma | 3 C0876993 | ventricular thrombosis | 3 C0014117 | endocardial fibroelastosis | 3 C0587044 | left ventricular thrombus | 3 C0232197 | fibrillation | 3 C0876998 | intracardiac thrombus | 2 C0042769 | virus infection | 2 C0040038 | thromboembolism | 2 C0865681 | chronic myocarditis | 2 C0149721 | left ventricular hypertrophy | 1 C0018817 | atrial septal defect | 1 C1281998 | refractory heart failure | 1 C0020542 | pulmonary hypertension | 1 C0750197 | sustained ventricular tachycardia | 1 C0587044 | left ventricular thrombosis | 1 C0003872 | psoriatic arthritis | 1 C0007785 | cerebral infarction | 1 C0026266 | mitral insufficiency | 1 C0264732 | cardiac dilatation | 1 C0948600 | organ failure | 1 C0876998 | cardiac thrombosis | 1 C0264714 | acute heart failure | 1 C0026266 | mitral valve regurgitation | 1 C0042510 | ventricular fibrillation | 1 C0023212 | left ventricular failure | 1 |
Manually Genotype(Total Manually Genotypes:64) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| TAZ | Nullizygous del exon 1– | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| MYBPC3 | c.537C>T p.Ala179Ala | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| TNNT2 | c.400C>G p.Arg134Gly | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYH7 | c.5380C>G p.Gln1794Glu | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYH7 | c.1549C>A p.Leu517Met | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.3330>2T>G | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ACTN2 | c.2520del p.Asp841fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.1628del p.Lys453fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.2558del p.Gly853fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.3735del p.Phe1246fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.1357_1358del p.Pro453fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.2833_2834del p.Arg945fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.2780_2781del p.Thr927fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.3476_3477del p.Phe1159fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYH7 | c.457del p.His153fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| TNNI3 | c.12–7del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYH7 | c.1477_1478del p.Met493fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.1513_1515del p.Lys505del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.1814_1816del p.Asp405del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYH7 | c.4522_4524del p.Glu1508del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYH7 | c.5186_5188del p.Lys1729del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| TNNT2 | c.53–11_53–7del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| TNNT2 | c.285_287del p.Glu96del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| TNNT2 | c.487_489del p.Glu163del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.2148>6_2148>9del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.2943_2947del p.Gln981fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.3600_3609del p.Cys1201fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.177_187del p.Glu60fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.1457>6_1457>25del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.2373_2374insG p.Trp792fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.3166_3167insG p.Ala1056fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.3226_3227insT p.Asp1076fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.333_334insT p.Glu112X | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.506–12_506–11insC | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.3332_3335dup p.Trp1112fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.3742_3759dup p.Gly1248_Cys1253dup | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.1999_2000delinsG p.Leu667fs | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYBPC3 | c.239delCinsGAGG p.Ala80delinsGlyGly | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| MYH7 | c.3337–3_3337–2insC | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| DES | c.897>4_897>5del | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| CSRP3 | c.148G>A p.Ala50Thr | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ACTN2 | c.343G>A p.Val115Met | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| VCL | c.314G>A p.Arg105Gln | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| VCL | c.3373C>T p.Arg1125Cys | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| VCL | c.1907A>G p.His636Arg | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ACTN2 | c.2194G>A p.Ala732Thr | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| CSRP3 | c.535A>G p.Thr179Ala | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ABCC9 | c.2093–7T>C | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ABCC9 | c.2200G>A p.Val734Ile | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ABCC9 | c.3409G>A p.Val1137Ile | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| CSRP3 | c.10T>C p.Trp4Arg | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| DES | c.638C>T p.Ala213Val | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| DES | c.1375G>A p.Val459Ile | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| DES | c.9G>A p.Gln3Gln | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| DES | c.669T>C p.Ile223Ile | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ACTN2 | c.762C>T p.His254His | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ABCC9 | c.2262T>C p.Tyr754Tyr | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ABCC9 | c.2523C>T p.Ala841Ala | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ABCC9 | c.2631G>A p.Thr877Thr | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| ABCC9 | c.3768T>C p.Leu1256Leu | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| EMD | c.144C>T p.Leu48Leu | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| SGCD | c.123C>G p.Leu41Leu | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| VCL | c.768T>C p.Asp256Asp | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
| VCL | c.2025G>A p.Val675Val | doi:10.1097/GIM.0b013e3181d6f7c0 | A novel custom resequencing array for dilated cardiomyopathy |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:140) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893823 | 17446435 | 1769 | DNAH8 | umls:C0007193 | BeFree | We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to Asp (cTnC-G159D) mutation on the development of Ca(2+)-dependent tension and ATPase rate in whole troponin-exchanged skinned rat trabeculae. | 0.002714419 | 2007 | TNNC1 | 3 | 52451285 | C | T |
| rs104893823 | 18803402 | 7134 | TNNC1 | umls:C0007193 | BeFree | The dilated cardiomyopathy G159D mutation in cardiac troponin C weakens the anchoring interaction with troponin I. | 0.133254501 | 2008 | TNNC1 | 3 | 52451285 | C | T |
| rs104893823 | 17446435 | 7134 | TNNC1 | umls:C0007193 | BeFree | We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to Asp (cTnC-G159D) mutation on the development of Ca(2+)-dependent tension and ATPase rate in whole troponin-exchanged skinned rat trabeculae. | 0.133254501 | 2007 | TNNC1 | 3 | 52451285 | C | T |
| rs104893823 | 17577574 | 7134 | TNNC1 | umls:C0007193 | BeFree | Dilated cardiomyopathy (DCM) can be caused by a Gly159Asp mutation in cardiac troponin C (cTnC). | 0.133254501 | 2007 | TNNC1 | 3 | 52451285 | C | T |
| rs104894501 | 17360712 | 7168 | TPM1 | umls:C0007193 | BeFree | E40K and E54K mutations in alpha-tropomyosin cause inherited dilated cardiomyopathy. | 0.015721222 | 2007 | TPM1 | 15 | 63044030 | G | A,T |
| rs104894501 | 19222994 | 7168 | TPM1 | umls:C0007193 | BeFree | The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM). | 0.015721222 | 2009 | TPM1 | 15 | 63044030 | G | A,T |
| rs104894501 | 21741356 | 7168 | TPM1 | umls:C0007193 | BeFree | The effect of the dilated cardiomyopathy-causing Glu40Lys TPM1 mutation on actin-myosin interactions during the ATPase cycle. | 0.015721222 | 2011 | TPM1 | 15 | 63044030 | G | A,T |
| rs104894505 | 19222994 | 7168 | TPM1 | umls:C0007193 | BeFree | The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM). | 0.015721222 | 2009 | TPM1 | 15 | 63044072 | G | A |
| rs104894505 | 19646950 | 7168 | TPM1 | umls:C0007193 | BeFree | The effect of the dilated cardiomyopathy-causing mutation Glu54Lys of alpha-tropomyosin on actin-myosin interactions during the ATPase cycle. | 0.015721222 | 2009 | TPM1 | 15 | 63044072 | G | A |
| rs104894505 | 17360712 | 7168 | TPM1 | umls:C0007193 | BeFree | E40K and E54K mutations in alpha-tropomyosin cause inherited dilated cardiomyopathy. | 0.015721222 | 2007 | TPM1 | 15 | 63044072 | G | A |
| rs104894505 | 17556658 | 7168 | TPM1 | umls:C0007193 | BeFree | To investigate the functional consequences of alpha-TM mutations associated with DCM, we generated transgenic mice that express mutant alpha-TM (Glu54Lys) in the adult heart. | 0.015721222 | 2007 | TPM1 | 15 | 63044072 | G | A |
| rs10927875 | 21459883 | 7709 | ZBTB17 | umls:C0007193 | GWASCAT | A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. | 0.122638474 | 2011 | ZBTB17 | 1 | 15972817 | C | T |
| rs10927875 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | ZBTB17 | 1 | 15972817 | C | T |
| rs10927875 | 21459883 | 27129 | HSPB7 | umls:C0007193 | BeFree | 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. | 0.003181358 | 2011 | ZBTB17 | 1 | 15972817 | C | T |
| rs10927875 | 21459883 | 7709 | ZBTB17 | umls:C0007193 | GAD | [This GWAS identified two loci involved in sporadic DCM, one of them probably implicates BAG3. Our results show that rare mutations in BAG3 contribute to monogenic forms of the disease, while common variant(s) in the same gene are implicated in sporadic DC] | 0.122638474 | 2011 | ZBTB17 | 1 | 15972817 | C | T |
| rs10927875 | 23570452 | 7709 | ZBTB17 | umls:C0007193 | BeFree | The ZBTB17 polymorphism rs10927875 appears to play a role in the susceptibility of the Han Chinese population to DCM. | 0.122638474 | 2013 | ZBTB17 | 1 | 15972817 | C | T |
| rs113186231 | NA | 4625 | MYH7 | umls:C0007193 | CLINVAR | NA | 0.262279435 | NA | MYH7 | 14 | 23427584 | C | G,T |
| rs11614913 | 20488170 | 574501 | MIR499A | umls:C0007193 | BeFree | Both the has-mir-196a2 rs11614913 C/T and hsa-mir-499 rs3746444 A/G, but not hsa-mir-146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. | 0.002909916 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 20488170 | 406938 | MIR146A | umls:C0007193 | BeFree | Both the has-mir-196a2 rs11614913 C/T and hsa-mir-499 rs3746444 A/G, but not hsa-mir-146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. | 0.002638474 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs121434420 | 22177269 | 4000 | LMNA | umls:C0007193 | BeFree | The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). | 0.297602723 | 2012 | PKP2 | 12 | 32879021 | G | A |
| rs121434420 | 22177269 | 4625 | MYH7 | umls:C0007193 | BeFree | The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). | 0.262279435 | 2012 | PKP2 | 12 | 32879021 | G | A |
| rs121909298 | 23695275 | 6444 | SGCD | umls:C0007193 | BeFree | A p.S151A missense mutation in exon 6 of the Sgcd gene was reported to cause severe isolated autosomal dominant DCM without affecting skeletal muscle. | 0.005352893 | 2013 | SGCD | 5 | 156595000 | T | G |
| rs121912997 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7579989 | C | T |
| rs121913002 | 11728149 | 1674 | DES | umls:C0007193 | BeFree | The missense mutation (Ile451Met) of the desmin gene can be the genetic cause of dilated cardiomyopathy, although with very low frequency. | 0.136707301 | 2001 | DES | 2 | 219425727 | C | G,T |
| rs121917776 | 16712796 | 7414 | VCL | umls:C0007193 | BeFree | The R975W mutation, in the alternatively spliced exon 19 of vinculin (VCL) which yields the isoform metavinculin, was associated previously with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), and shown to alter in vivo organization of intercalated discs. | 0.004267125 | 2006 | VCL | 10 | 74112086 | C | T |
| rs121917776 | 23159629 | 7414 | VCL | umls:C0007193 | BeFree | Here, we demonstrate that the metavinculin-specific helix H1' plays an important role for protein stability of the tail domain, since a point mutation in this helix, R975W, which is associated with the occurrence of dilated cardiomyopathy in man, further decreases thermal stability of the metavinculin tail domain. | 0.004267125 | 2013 | VCL | 10 | 74112086 | C | T |
| rs121917776 | 16236538 | 7414 | VCL | umls:C0007193 | BeFree | Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. | 0.004267125 | 2006 | VCL | 10 | 74112086 | C | T |
| rs121917809 | NA | 5663 | PSEN1 | umls:C0007193 | CLINVAR | NA | 0.240814326 | NA | PSEN1 | 14 | 73211811 | A | G |
| rs1370154 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | ACTC1;LOC101928174 | 15 | 34790024 | C | T |
| rs137854618 | 21824921 | 6331 | SCN5A | umls:C0007193 | BeFree | The D1275N SCN5A mutation has been associated with a range of unusual phenotypes, including conduction disease and dilated cardiomyopathy, as well as atrial and ventricular tachyarrhythmias. | 0.133430135 | 2011 | SCN5A | 3 | 38566426 | C | T,A |
| rs137854618 | 23791817 | 6331 | SCN5A | umls:C0007193 | BeFree | The aim of this study was to generate and characterize a transgenic zebrafish arrhythmia model harboring the pathogenic human cardiac sodium channel mutation SCN5A-D1275N, that has been robustly associated with a range of cardiac phenotypes, including conduction disease, sinus node dysfunction, atrial and ventricular arrhythmias, and dilated cardiomyopathy in humans and in mice. | 0.133430135 | 2013 | SCN5A | 3 | 38566426 | C | T,A |
| rs140148105 | NA | 84665 | MYPN | umls:C0007193 | CLINVAR | NA | 0.123267234 | NA | MYPN | 10 | 68121497 | A | G |
| rs142000963 | 22177269 | 4625 | MYH7 | umls:C0007193 | BeFree | The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). | 0.262279435 | 2012 | LMNA | 1 | 156138719 | C | A,T |
| rs142000963 | NA | 4000 | LMNA | umls:C0007193 | CLINVAR | NA | 0.297602723 | NA | LMNA | 1 | 156138719 | C | A,T |
| rs142000963 | 22177269 | 4000 | LMNA | umls:C0007193 | BeFree | The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). | 0.297602723 | 2012 | LMNA | 1 | 156138719 | C | A,T |
| rs144799937 | NA | 1824 | DSC2 | umls:C0007193 | CLINVAR | NA | 0.122367032 | NA | DSC2 | 18 | 31092151 | C | T |
| rs145734640 | 25666907 | 4625 | MYH7 | umls:C0007193 | BeFree | Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. | 0.262279435 | 2015 | MYH7;MHRT | 14 | 23415096 | G | A,C |
| rs149576470 | NA | 4625 | MYH7 | umls:C0007193 | CLINVAR | NA | 0.262279435 | NA | MYH7 | 14 | 23424863 | G | A |
| rs150840924 | NA | 4000 | LMNA | umls:C0007193 | CLINVAR | NA | 0.297602723 | NA | LMNA | 1 | 156136359 | C | T |
| rs1739843 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | HSPB7 | 1 | 16016759 | T | C |
| rs1800888 | 16783489 | 154 | ADRB2 | umls:C0007193 | BeFree | It has been suggested that patients with chronic heart failure (CHF) due to ischemic or dilated cardiomyopathy carrying the Thr164Ile-beta(2)AR polymorphism exhibit much more rapid progression to death or heart transplantation (HTX) than CHF-patients carrying the homozygous Thr164-beta(2)AR. | 0.212735362 | 2006 | ADRB2 | 5 | 148827322 | C | T |
| rs1801252 | 22664639 | 153 | ADRB1 | umls:C0007193 | BeFree | Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients with DCM. | 0.226370926 | 2012 | ADRB1 | 10 | 114044277 | A | G |
| rs1801252 | 22664639 | 6530 | SLC6A2 | umls:C0007193 | BeFree | Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients with DCM. | 0.000542884 | 2012 | ADRB1 | 10 | 114044277 | A | G |
| rs1801253 | 12197595 | 153 | ADRB1 | umls:C0007193 | BeFree | In vitro, the Gly389 variant of beta1-AR mediates less adenylyl cyclase activities than the Arg389 variant, so Arg389Gly polymorphism was investigated with regard to the genesis, progression, or arrhythmogenesis of dilated cardiomyopathy (DCM). | 0.226370926 | 2002 | ADRB1 | 10 | 114045297 | G | C |
| rs1801253 | 22664639 | 6530 | SLC6A2 | umls:C0007193 | BeFree | Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients with DCM. | 0.000542884 | 2012 | ADRB1 | 10 | 114045297 | G | C |
| rs1801253 | 22664639 | 153 | ADRB1 | umls:C0007193 | BeFree | Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients with DCM. | 0.226370926 | 2012 | ADRB1 | 10 | 114045297 | G | C |
| rs181834806 | NA | 4607 | MYBPC3 | umls:C0007193 | CLINVAR | NA | 0.251639663 | NA | MYBPC3 | 11 | 47342658 | T | C |
| rs199473025 | NA | 3757 | KCNH2 | umls:C0007193 | CLINVAR | NA | 0.120271442 | NA | KCNH2 | 7 | 150947347 | G | A |
| rs199473153 | 20022821 | 6331 | SCN5A | umls:C0007193 | BeFree | Activation and repolarization characteristics of the explanted heart of a patient with a loss-of-function mutation in SCN5A (G752R) and dilated cardiomyopathy were determined after induction of right-sided ST-segment elevation by ajmaline. | 0.133430135 | 2010 | SCN5A | 3 | 38597737 | C | T |
| rs199473157 | NA | 6331 | SCN5A | umls:C0007193 | CLINVAR | NA | 0.133430135 | NA | SCN5A | 3 | 38587522 | C | T |
| rs199473339 | NA | 6331 | SCN5A | umls:C0007193 | CLINVAR | NA | 0.133430135 | NA | SCN5A | 3 | 38605953 | C | T |
| rs199473341 | NA | 6331 | SCN5A | umls:C0007193 | CLINVAR | NA | 0.133430135 | NA | SCN5A | 3 | 38566414 | C | T |
| rs199865688 | NA | 4607 | MYBPC3 | umls:C0007193 | CLINVAR | NA | 0.251639663 | NA | MYBPC3 | 11 | 47337496 | C | T |
| rs200119454 | NA | 4607 | MYBPC3 | umls:C0007193 | CLINVAR | NA | 0.251639663 | NA | MYBPC3 | 11 | 47346336 | C | G,T |
| rs200229074 | 17921333 | 27302 | BMP10 | umls:C0007193 | BeFree | A rare variant of the human BMP10 gene, Thr326Ile, was found to be associated with hypertensive dilated cardiomyopathy. | 0.000271442 | 2007 | BMP10 | 2 | 68865929 | G | A,T |
| rs201327273 | NA | 4624 | MYH6 | umls:C0007193 | CLINVAR | NA | 0.248001298 | NA | MYH6 | 14 | 23403422 | A | T |
| rs201754030 | NA | 10102 | TSFM | umls:C0007193 | CLINVAR | NA | 0.12 | NA | TSFM | 12 | 57796461 | C | T |
| rs201865159 | NA | 4625 | MYH7 | umls:C0007193 | CLINVAR | NA | 0.262279435 | NA | MYH7;MHRT | 14 | 23415060 | G | A,C |
| rs2070664 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | ACTC1;LOC101928174 | 15 | 34793000 | C | T |
| rs2234962 | 21459883 | 9531 | BAG3 | umls:C0007193 | GWASCAT | Our results show that rare mutations in BAG3 contribute to monogenic forms of the disease, while common variant(s) in the same gene are implicated in sporadic DCM. | 0.244267125 | 2011 | BAG3 | 10 | 119670121 | T | C |
| rs2234962 | 21459883 | 9531 | BAG3 | umls:C0007193 | GAD | [Our results show that rare mutations in BAG3 contribute to monogenic forms of the disease, while common variant(s) in the same gene are implicated in sporadic DCM.] | 0.244267125 | 2011 | BAG3 | 10 | 119670121 | T | C |
| rs2242446 | 22664639 | 153 | ADRB1 | umls:C0007193 | BeFree | Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients with DCM. | 0.226370926 | 2012 | SLC6A2;LOC105376770 | 16 | 55656513 | C | T |
| rs2242446 | 22664639 | 6530 | SLC6A2 | umls:C0007193 | BeFree | Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients with DCM. | 0.000542884 | 2012 | SLC6A2;LOC105376770 | 16 | 55656513 | C | T |
| rs267607004 | NA | 282996 | RBM20 | umls:C0007193 | CLINVAR | NA | 0.121085767 | NA | RBM20 | 10 | 110812304 | G | A |
| rs267607155 | 11788824 | 7273 | TTN | umls:C0007193 | BeFree | In another large family with DCM linked to CMD1G, a TTN missense mutation (Trp930Arg) is predicted to disrupt a highly conserved hydrophobic core sequence of an immunoglobulin fold located in the Z-disc-I-band transition zone. | 0.258411897 | 2002 | TTN | 2 | 178782980 | A | T,G |
| rs267607554 | 24001739 | 4000 | LMNA | umls:C0007193 | BeFree | The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. | 0.297602723 | 2013 | LMNA | 1 | 156135925 | C | T |
| rs267607578 | NA | 4000 | LMNA | umls:C0007193 | CLINVAR | NA | 0.297602723 | NA | LMNA | 1 | 156136952 | G | A |
| rs267607578 | 22177269 | 4625 | MYH7 | umls:C0007193 | BeFree | The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). | 0.262279435 | 2012 | LMNA | 1 | 156136952 | G | A |
| rs267607578 | 22177269 | 4000 | LMNA | umls:C0007193 | BeFree | The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). | 0.297602723 | 2012 | LMNA | 1 | 156136952 | G | A |
| rs2856655 | 12628722 | 4607 | MYBPC3 | umls:C0007193 | BeFree | We identified 17 individuals in 8 families (7 HCM, 1 DCM) with an Arg820Gln mutation in the MyBP-C gene. | 0.251639663 | 2003 | MYBPC3 | 11 | 47337534 | C | T,G |
| rs2910164 | 20488170 | 574501 | MIR499A | umls:C0007193 | BeFree | Both the has-mir-196a2 rs11614913 C/T and hsa-mir-499 rs3746444 A/G, but not hsa-mir-146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. | 0.002909916 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 20488170 | 406938 | MIR146A | umls:C0007193 | BeFree | Both the has-mir-196a2 rs11614913 C/T and hsa-mir-499 rs3746444 A/G, but not hsa-mir-146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. | 0.002638474 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs371488302 | NA | 4607 | MYBPC3 | umls:C0007193 | CLINVAR | NA | 0.251639663 | NA | MYBPC3 | 11 | 47337792 | C | T |
| rs371564200 | NA | 4607 | MYBPC3 | umls:C0007193 | CLINVAR | NA | 0.251639663 | NA | MYBPC3 | 11 | 47341207 | C | G,T |
| rs3745297 | 21742996 | 3270 | HRC | umls:C0007193 | BeFree | The histidine-rich calcium binding protein (HRC) Ser96Ala polymorphism was shown to correlate with ventricular arrhythmias and sudden death only in dilated cardiomyopathy patients but not in healthy human carriers. | 0.002909916 | 2011 | HRC | 19 | 49154952 | A | C |
| rs3745297 | 24125847 | 3270 | HRC | umls:C0007193 | BeFree | A human genetic variant (Ser96Ala) in the sarcoplasmic reticulum (SR) histidine-rich Ca(2+)-binding (HRC) protein has been linked to ventricular arrhythmia and sudden death in dilated cardiomyopathy. | 0.002909916 | 2014 | HRC | 19 | 49154952 | A | C |
| rs3746444 | 20488170 | 574501 | MIR499A | umls:C0007193 | BeFree | Both the has-mir-196a2 rs11614913 C/T and hsa-mir-499 rs3746444 A/G, but not hsa-mir-146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. | 0.002909916 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 20488170 | 406938 | MIR146A | umls:C0007193 | BeFree | Both the has-mir-196a2 rs11614913 C/T and hsa-mir-499 rs3746444 A/G, but not hsa-mir-146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. | 0.002638474 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3759834 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | ACTC1;LOC101928174 | 15 | 34796504 | A | G |
| rs376965389 | 24227891 | 6331 | SCN5A | umls:C0007193 | BeFree | A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese? | 0.133430135 | 2013 | SCN5A | 3 | 38575421 | A | G |
| rs386134243 | NA | 4000 | LMNA | umls:C0007193 | CLINVAR | NA | 0.297602723 | NA | LMNA | 1 | 156135967 | C | A,T |
| rs386453520 | 14660611 | 10611 | PDLIM5 | umls:C0007193 | BeFree | It was demonstrated by both assays that the D626N mutation of Cypher/ZASP increased the affinity of the LIM domain for protein kinase C, suggesting a novel biochemical mechanism of the pathogenesis of dilated cardiomyopathy. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
| rs386575466 | 12628722 | 4607 | MYBPC3 | umls:C0007193 | BeFree | We identified 17 individuals in 8 families (7 HCM, 1 DCM) with an Arg820Gln mutation in the MyBP-C gene. | 0.251639663 | 2003 | NA | NA | NA | NA | NA |
| rs386596107 | 21062213 | 2876 | GPX1 | umls:C0007193 | BeFree | The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a common Pro-Leu polymorphism in GPx1, in a cohort of patients with a cardiogenic shock (CS) due to dilated cardiomyopathy without acute coronary syndrome. | 0.123181358 | 2011 | NA | NA | NA | NA | NA |
| rs386596107 | 21062213 | 6648 | SOD2 | umls:C0007193 | BeFree | The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a common Pro-Leu polymorphism in GPx1, in a cohort of patients with a cardiogenic shock (CS) due to dilated cardiomyopathy without acute coronary syndrome. | 0.120814326 | 2011 | NA | NA | NA | NA | NA |
| rs397515939 | NA | 4607 | MYBPC3 | umls:C0007193 | CLINVAR | NA | 0.251639663 | NA | MYBPC3 | 11 | 47339758 | G | C,A |
| rs397515985 | 21832052 | 4607 | MYBPC3 | umls:C0007193 | BeFree | One variant (D145E) that was previously reported in association with hypertrophic cardiomyopathy and that produced results in vivo in this study consistent with prior hypertrophic cardiomyopathy functional studies was found associated with the MYBPC3 P910T rare variant, likely contributing to the observed DCM phenotype. | 0.251639663 | 2011 | MYBPC3 | 11 | 47335886 | G | T |
| rs397516784 | 23270881 | 5350 | PLN | umls:C0007193 | BeFree | Recently, a nondesmosomal phospholamban (PLN) mutation (c.40_42delAGA) has been identified, causing dilated cardiomyopathy and arrhythmias. | 0.019150278 | 2013 | PLN;CEP85L | 6 | 118558961 | AGA | - |
| rs397516848 | NA | 7134 | TNNC1 | umls:C0007193 | CLINVAR | NA | 0.133254501 | NA | TNNC1 | 3 | 52451403 | T | C |
| rs397516913 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7567786 | T | - |
| rs397516927 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7577013 | - | A |
| rs397516945 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7559337 | - | A |
| rs397516955 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7562753 | G | A |
| rs397516956 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7562766 | - | A |
| rs397516973 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7565448 | C | A,T |
| rs41261344 | 22519808 | 6331 | SCN5A | umls:C0007193 | BeFree | Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months. | 0.133430135 | 2012 | SCN5A | 3 | 38575385 | C | T |
| rs41310765 | 24227891 | 6331 | SCN5A | umls:C0007193 | BeFree | A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese? | 0.133430135 | 2013 | SCN5A | 3 | 38575424 | G | A |
| rs45496496 | NA | 4625 | MYH7 | umls:C0007193 | CLINVAR | NA | 0.262279435 | NA | MYH7 | 14 | 23423939 | C | G |
| rs45514002 | 14660611 | 10611 | PDLIM5 | umls:C0007193 | BeFree | It was demonstrated by both assays that the D626N mutation of Cypher/ZASP increased the affinity of the LIM domain for protein kinase C, suggesting a novel biochemical mechanism of the pathogenesis of dilated cardiomyopathy. | 0.000271442 | 2004 | LDB3 | 10 | 86726175 | G | A |
| rs45516091 | NA | 4625 | MYH7 | umls:C0007193 | CLINVAR | NA | 0.262279435 | NA | MYH7 | 14 | 23431608 | G | A |
| rs45525839 | NA | 7139 | TNNT2 | umls:C0007193 | CLINVAR | NA | 0.255635346 | NA | TNNT2 | 1 | 201364357 | G | T,C,A |
| rs45546039 | 22999724 | 6331 | SCN5A | umls:C0007193 | BeFree | R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. | 0.133430135 | 2012 | SCN5A | 3 | 38613781 | C | T |
| rs45563942 | NA | 6331 | SCN5A | umls:C0007193 | CLINVAR | NA | 0.133430135 | NA | SCN5A | 3 | 38550865 | A | G |
| rs45586240 | NA | 7139 | TNNT2 | umls:C0007193 | CLINVAR | NA | 0.255635346 | NA | TNNT2 | 1 | 201361989 | G | T,A |
| rs45586240 | 24205113 | 7139 | TNNT2 | umls:C0007193 | BeFree | A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family members and was also detected in one additional DCM family in our registry. | 0.255635346 | 2013 | TNNT2 | 1 | 201361989 | G | T,A |
| rs4796793 | 21948258 | 6774 | STAT3 | umls:C0007193 | BeFree | The present pilot study provides evidence that both rs6503691 T allele and CT/TT genotypes, but not rs4796793 C/G in the 5' region of STAT3, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphism in STATs is associated with DCM. | 0.000542884 | 2012 | STAT3 | 17 | 42390192 | G | C |
| rs4880 | 21062213 | 2876 | GPX1 | umls:C0007193 | BeFree | The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a common Pro-Leu polymorphism in GPx1, in a cohort of patients with a cardiogenic shock (CS) due to dilated cardiomyopathy without acute coronary syndrome. | 0.123181358 | 2011 | SOD2 | 6 | 159692840 | A | G |
| rs4880 | 21062213 | 6648 | SOD2 | umls:C0007193 | BeFree | The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a common Pro-Leu polymorphism in GPx1, in a cohort of patients with a cardiogenic shock (CS) due to dilated cardiomyopathy without acute coronary syndrome. | 0.120814326 | 2011 | SOD2 | 6 | 159692840 | A | G |
| rs525720 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | ACTC1;LOC101928174 | 15 | 34796933 | C | T |
| rs533021 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | ACTC1;LOC101928174 | 15 | 34788730 | T | C |
| rs563762318 | NA | 282996 | RBM20 | umls:C0007193 | CLINVAR | NA | 0.121085767 | NA | RBM20 | 10 | 110831154 | G | A |
| rs56984562 | 19167105 | 4000 | LMNA | umls:C0007193 | BeFree | Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. | 0.297602723 | 2010 | LMNA | 1 | 156137666 | C | A,G,T |
| rs57045855 | 18502446 | 4000 | LMNA | umls:C0007193 | BeFree | The study documents that D192G mutation in LMNA gene may lead to the disruption of the nuclear wall in cardiomyocytes, thus supporting the mechanical hypothesis of dilated cardiomyopathy development in humans, which might be mutation-specific. | 0.297602723 | 2008 | LMNA | 1 | 156134464 | A | G,T |
| rs58327533 | 20092787 | 4000 | LMNA | umls:C0007193 | BeFree | R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B. | 0.297602723 | 2009 | LMNA | 1 | 156114991 | C | G,T |
| rs587782927 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7574086 | AG | - |
| rs587782962 | NA | 4625 | MYH7 | umls:C0007193 | CLINVAR | NA | 0.262279435 | NA | MYH7 | 14 | 23422267 | C | T |
| rs589759 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | ACTC1;LOC101928174 | 15 | 34789373 | C | T |
| rs59270054 | 16630578 | 4000 | LMNA | umls:C0007193 | BeFree | We screened genetic mutations in a large Chinese family of 50 members including members with dilated cardiomyopathy and found a Glu82Lys substitution mutation in the rod domain of the lamin A/C protein in eight family members, three of them have been diagnosed as dilated cardiomyopathy, one presented with heart dilation. | 0.297602723 | 2006 | LMNA | 1 | 156115162 | G | A |
| rs61661343 | 15140538 | 4000 | LMNA | umls:C0007193 | BeFree | Screening for the lamin A/C gene and, particularly, the S143P mutation seems warranted when patients with DCM have conduction system disturbances. | 0.297602723 | 2004 | LMNA | 1 | 156130687 | T | C |
| rs61726467 | 16890305 | 1674 | DES | umls:C0007193 | BeFree | The location of the E413K mutation at a highly conserved end of the alpha-helical rod domain may be related to the phenotypic differences from the previously described DCM-associated desmin mutations. | 0.136707301 | 2007 | DES | 2 | 219421553 | G | A |
| rs62636492 | NA | 1674 | DES | umls:C0007193 | CLINVAR | NA | 0.136707301 | NA | DES | 2 | 219421364 | C | T |
| rs63750743 | 24598986 | 79188 | TMEM43 | umls:C0007193 | BeFree | We excluded TMEM43-p.S358L in 22 unrelated patients with dilated cardiomyopathy. | 0.000271442 | 2014 | TMEM43 | 3 | 14141665 | C | T |
| rs6503691 | 21948258 | 6774 | STAT3 | umls:C0007193 | BeFree | The present pilot study provides evidence that both rs6503691 T allele and CT/TT genotypes, but not rs4796793 C/G in the 5' region of STAT3, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphism in STATs is associated with DCM. | 0.000542884 | 2012 | STAT5B | 17 | 42242072 | C | T |
| rs6660685 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | CLCNKA;HSPB7 | 1 | 16020493 | A | G |
| rs670957 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | ACTC1;LOC101928174 | 15 | 34797231 | G | A |
| rs71534278 | NA | 84665 | MYPN | umls:C0007193 | CLINVAR | NA | 0.123267234 | NA | MYPN;LOC105378341 | 10 | 68199417 | C | A,T |
| rs727502994 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7581569 | - | AG |
| rs727503000 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7579664 | - | A |
| rs727504498 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7570477 | C | T |
| rs727504738 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7559294 | CC | AGCTCGAGTCCCTCG |
| rs727505077 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7571432 | A | - |
| rs727505115 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7572069 | G | A |
| rs730880055 | NA | 9531 | BAG3 | umls:C0007193 | CLINVAR | NA | 0.244267125 | NA | BAG3 | 10 | 119676851 | C | T |
| rs730880093 | NA | 1832 | DSP | umls:C0007193 | CLINVAR | NA | 0.120814326 | NA | DSP | 6 | 7583655 | A | - |
| rs730880132 | NA | 4000 | LMNA | umls:C0007193 | CLINVAR | NA | 0.297602723 | NA | LMNA | 1 | 156134875 | T | C |
| rs730880140 | NA | 4607 | MYBPC3 | umls:C0007193 | CLINVAR | NA | 0.251639663 | NA | MYBPC3 | 11 | 47333297 | T | C |
| rs730880244 | NA | 7273 | TTN | umls:C0007193 | CLINVAR | NA | 0.258411897 | NA | TTN | 2 | 178635717 | T | G |
| rs74315379 | NA | 7139 | TNNT2 | umls:C0007193 | CLINVAR | NA | 0.255635346 | NA | TNNT2 | 1 | 201364336 | G | T,A |
| rs74315380 | NA | 7139 | TNNT2 | umls:C0007193 | CLINVAR | NA | 0.255635346 | NA | TNNT2 | 1 | 201364366 | G | A |
| rs7523558 | 23570452 | 70 | ACTC1 | umls:C0007193 | BeFree | To assess the potential role of these three genes in DCM, we examined 11 single nucleotide polymorphisms (SNPs) in the ZBTB17, HSPB7 and ACTC1 genes: namely, rs10927875 in ZBTB17; rs1739843, rs7523558, and rs6660685 in HSPB7; rs533021, rs589759, rs1370154, rs2070664, rs3759834, rs525720 and rs670957 in ACTC1. | 0.131368221 | 2013 | CLCNKA;HSPB7 | 1 | 16020237 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:18) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 16299312 | rs10927875 | C | T | rs10927875 | 21459883 | 1.00E-09 | NA | 1.32 | [1.19-1.43] | 1,179 European ancestry cases; 1,108 European ancestry controls | European(2287) | ALL(2287) | EUR(2287) | ALL(2287) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | NA | Research Support, Non-U.S. Gov't | T | ZBTB17 |
| 1 | 16343254 | rs1739843 | T | C | rs1739843 | 20975947 | 5.28E-13 | Idiopathic dilated cardiomyopathy | NA | NA | 664 European ancestry cases; 1874 European ancestry controls | European(2538) | ALL(2538) | EUR(2538) | ALL(2538) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | NA | Research Support, Non-U.S. Gov't | C | HSPB7 |
| 1 | 26900708 | rs2229714 | G | A | rs2229714 | 20975947 | 1.51E-06 | Idiopathic dilated cardiomyopathy | NA | NA | 664 European ancestry cases; 1874 European ancestry controls | European(2538) | ALL(2538) | EUR(2538) | ALL(2538) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | NA | Research Support, Non-U.S. Gov't | A | RPS6KA1 |
| 2 | 70943850 | rs7597774 | A | C | rs7597774 | 20975947 | 2.05E-07 | Idiopathic dilated cardiomyopathy | NA | NA | 664 European ancestry cases; 1874 European ancestry controls | European(2538) | ALL(2538) | EUR(2538) | ALL(2538) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | NA | Research Support, Non-U.S. Gov't | C | ADD2 |
| 2 | 215285651 | rs13428663 | A | G | rs13428663 | 23853074 | 2.86E-05 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs13428663-G | Multicenter Study | Research Support, Non-U.S. Gov't | A |
| 6 | 26112893 | rs933199 | T | C | rs933199 | 23853074 | 3.96E-06 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs933199-G | Multicenter Study | Research Support, Non-U.S. Gov't | A |
| 6 | 30628082 | rs3130000 | A | G | rs3130000 | 23853074 | 5.78E-07 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs3130000-T | Multicenter Study | Research Support, Non-U.S. Gov't | G |
| 6 | 31021017 | rs4713429 | C | G | rs4713429 | 23853074 | 3.31E-07 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs4713429-G | Multicenter Study | Research Support, Non-U.S. Gov't | C |
| 6 | 31021161 | rs9262615 | C | G | rs9262615 | 23853074 | 4.49E-08 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs9262615-C | Multicenter Study | Research Support, Non-U.S. Gov't | C |
| 6 | 31025479 | rs9262635 | A | G | rs9262635 | 23853074 | 6.44E-09 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs9262635-G | Multicenter Study | Research Support, Non-U.S. Gov't | A |
| 6 | 31025848 | rs9262636 | A | G | rs9262636 | 23853074 | 4.90E-09 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs9262636-G | Multicenter Study | Research Support, Non-U.S. Gov't | A |
| 6 | 31042070 | rs2523883 | C | T | rs2523883 | 23853074 | 2.58E-06 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs2523883-G | Multicenter Study | Research Support, Non-U.S. Gov't | G |
| 6 | 31058178 | rs4947296 | T | C | rs4947296 | 23853074 | 5.81E-07 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs4947296-C | Multicenter Study | Research Support, Non-U.S. Gov't | T |
| 9 | 98437158 | rs12552255 | A | G | rs12552255 | 23853074 | 1.37E-06 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs12552255-G | Multicenter Study | Research Support, Non-U.S. Gov't | A |
| 10 | 121429633 | rs2234962 | T | C | rs2234962 | 21459883 | 4.00E-12 | NA | 1.52 | [1.22-1.89] | 1,179 European ancestry cases; 1,108 European ancestry controls | European(2287) | ALL(2287) | EUR(2287) | ALL(2287) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | NA | Research Support, Non-U.S. Gov't | T | BAG3 |
| 12 | 22092921 | rs11046238 | A | G | rs11046238 | 20975947 | 4.00E-04 | Idiopathic dilated cardiomyopathy | NA | NA | 664 European ancestry cases; 1874 European ancestry controls | European(2538) | ALL(2538) | EUR(2538) | ALL(2538) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | NA | Research Support, Non-U.S. Gov't | A | NA |
| 12 | 92805433 | rs10859313 | C | T | rs10859313 | 23853074 | 1.52E-07 | NA | NA | NA | 909 German ancestry cases; 2,120 German ancestry controls | German(3029) | ALL(3029) | EUR(3029) | ALL(3029) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | rs10859313-A | Multicenter Study | Research Support, Non-U.S. Gov't | C |
| 21 | 36338916 | rs11701453 | C | G | rs11701453 | 20975947 | 1.65E-07 | Idiopathic dilated cardiomyopathy | NA | NA | 664 European ancestry cases; 1874 European ancestry controls | European(2538) | ALL(2538) | EUR(2538) | ALL(2538) | Dilated cardiomyopathy | HPOID:0001644 | Dilated cardiomyopathy | DOID:12930 | dilated cardiomyopathy | D002311 | Cardiomyopathy, Dilated | EFOID:0000407 | dilated cardiomyopathy | Heart disease | NA | Research Support, Non-U.S. Gov't | C | RUNX1 |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 102 |
|---|---|
| Disease | dilated cardiomyopathy |
| Case | (Waiting for update.) |