Disease Description

UMLS CUIC0018800
UMLS TermCardiomegaly
MeSH ID D006332
MeSH TermCardiomegaly
Disease Classes

Cardiovascular Diseases

Pathological Conditions, Signs and Symptoms

Gene SymbolDescriptionEntrez IDUniprot IDChromosomal Location

ADRA1B

adrenoceptor alpha 1B

147

P35368

chr5: 159,865,080-159,972,544

AGT

angiotensinogen (serpin peptidase inhibitor, clade A, member 8)

183

P01019

chr1: 230,702,523-230,714,297

AHR

aryl hydrocarbon receptor

196

P35869

chr7: 17,298,622-17,346,152

AKT1

v-akt murine thymoma viral oncogene homolog 1

207

P31749

chr14: 104,769,349-104,795,751

ATP2A2

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

488

P16615

chr12: 110,280,756-110,351,093

CABIN1

calcineurin binding protein 1

23523

Q9Y6J0

chr22: 24,011,192-24,178,628

CAV1

caveolin 1

857

Q03135

chr7: 116,524,785-116,561,184

CCND2

cyclin D2

894

P30279

chr12: 4,273,772-4,305,350

CPT1B

carnitine palmitoyltransferase 1B

1375

Q92523

chr22: 50,568,861-50,578,465

CTF1

cardiotrophin 1

1489

Q16619

chr16: 30,896,607-30,903,560

CYP1A1

cytochrome P450 family 1 subfamily A member 1

1543

P04798

chr15: 74,719,542-74,725,610

CYP1B1

cytochrome P450 family 1 subfamily B member 1

1545

Q16678

chr2: 38,066,973-38,109,902

CYP2E1

cytochrome P450 family 2 subfamily E member 1

1571

P05181

chr10: 133,520,406-133,561,220

DMD

dystrophin

1756

P11532

chrX: 31,097,677-33,339,441

EDN1

endothelin 1

1906

P05305

chr6: 12,290,363-12,297,194

FGF2

fibroblast growth factor 2 (basic)

2247

P09038

chr4: 122,826,708-122,898,236

GAS6

growth arrest specific 6

2621

Q14393

chr13: 113,820,549-113,864,067

GATA4

GATA binding protein 4

2626

P43694

chr8: 11,676,959-11,760,002

GSK3B

glycogen synthase kinase 3 beta

2932

P49841

chr3: 119,821,323-120,094,417

HDAC2

histone deacetylase 2

3066

Q92769

chr6: 113,933,028-114,011,308

HIF1A

hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)

3091

Q16665

chr14: 61,695,513-61,748,259

HMOX1

heme oxygenase 1

3162

P09601

chr22: 35,380,361-35,394,214

HTR2B

5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled

3357

P41595

chr2: 231,108,230-231,125,118

IGF1

insulin like growth factor 1

3479

P05019

chr12: 102,395,867-102,480,645

IL18

interleukin 18

3606

Q14116

chr11: 112,143,251-112,164,117

IL1B

interleukin 1 beta

3553

P01584

chr2: 112,829,751-112,836,903

ITPR2

inositol 1,4,5-trisphosphate receptor, type 2

3709

Q14571

chr12: 26,336,515-26,833,198

LIF

leukemia inhibitory factor

3976

P15018

chr22: 30,240,447-30,246,851

MFN2

mitofusin 2

9927

O95140

chr1: 11,980,181-12,013,514

MIR21

microRNA 21

406991

N/A

chr17: 59,841,266-59,841,337

MT2A

metallothionein 2A

4502

P02795

chr16: 56,608,199-56,609,497

NOS3

nitric oxide synthase 3

4846

P29474

chr7: 150,990,995-151,014,588

NPPB

natriuretic peptide B

4879

P16860

chr1: 11,857,464-11,858,931

PIK3CG

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

5294

P48736

chr7: 106,865,278-106,907,145

PLD1

phospholipase D1

5337

Q13393

chr3: 171,600,405-171,810,950

POMC

proopiomelanocortin

5443

P01189

chr2: 25,160,853-25,168,903

PPARA

peroxisome proliferator-activated receptor alpha

5465

Q07869

chr22: 46,150,521-46,243,756

PPARD

peroxisome proliferator-activated receptor delta

5467

Q03181

chr6: 35,342,558-35,428,191

PRKAA2

protein kinase, AMP-activated, alpha 2 catalytic subunit

5563

P54646

chr1: 56,645,322-56,715,335

PRKCA

protein kinase C, alpha

5578

P17252

chr17: 66,302,636-66,810,743

PRKCB

protein kinase C, beta

5579

P05771

chr16: 23,836,001-24,220,611

RRAD

Ras-related associated with diabetes

6236

P55042

chr16: 66,921,679-66,925,644

SOD2

superoxide dismutase 2, mitochondrial

6648

P04179

chr6: 159,669,057-159,762,529

STAT3

signal transducer and activator of transcription 3 (acute-phase response factor)

6774

P40763

chr17: 42,313,324-42,388,568

TNF

tumor necrosis factor

7124

P01375

chr6: 31,575,567-31,578,336

TRPC1

transient receptor potential cation channel, subfamily C, member 1

7220

P48995

chr3: 142,724,074-142,807,888

UCP2

uncoupling protein 2 (mitochondrial, proton carrier)

7351

P55851

chr11: 73,974,667-73,983,307