CHDS5
MCID: CRN214
MIFTS: 23

Coronary Heart Disease 5 (CHDS5)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Coronary Heart Disease 5

MalaCards integrated aliases for Coronary Heart Disease 5:

Name: Coronary Heart Disease 5 58 76 30 6
Coronary Heart Disease, Susceptibility to, 5 58 13 74
Chds5 58 76
Heart, Coronary, Disease, Susceptibility to, Type 5 41
Coronary Artery Disease, Early-Onset 58
Coronary Artery Disease Early-Onset 76
Early-Onset Coronary Artery Disease 6

Classifications:



External Ids:

OMIM 58 608901
MeSH 45 D003324
MedGen 43 C1837173
UMLS 74 C1837173

Summaries for Coronary Heart Disease 5

UniProtKB/Swiss-Prot : 76 Coronary heart disease 5: A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries.

MalaCards based summary : Coronary Heart Disease 5, also known as coronary heart disease, susceptibility to, 5, is related to abdominal obesity-metabolic syndrome 3 and hypercholesterolemia, familial. An important gene associated with Coronary Heart Disease 5 is KALRN (Kalirin RhoGEF Kinase). Affiliated tissues include heart and endothelial.

Description from OMIM: 608901

Related Diseases for Coronary Heart Disease 5

Diseases in the Coronary Heart Disease 1 family:

Coronary Heart Disease 3 Coronary Heart Disease 2
Coronary Heart Disease 4 Coronary Heart Disease 5
Coronary Heart Disease 7 Coronary Heart Disease 8
Coronary Heart Disease 9 Coronary Heart Disease 6

Diseases related to Coronary Heart Disease 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 abdominal obesity-metabolic syndrome 3 12.1
2 hypercholesterolemia, familial 10.1
3 arteries, anomalies of 10.0
4 myocardial infarction 10.0
5 coronary artery anomaly 10.0

Graphical network of the top 20 diseases related to Coronary Heart Disease 5:



Diseases related to Coronary Heart Disease 5

Symptoms & Phenotypes for Coronary Heart Disease 5

Clinical features from OMIM:

608901

Drugs & Therapeutics for Coronary Heart Disease 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Risk and Health Coaching for Type 2 Diabetes and Coronary Heart Disease Completed NCT01884545 Not Applicable
2 Quality of Life Assessment of Children With Congenital Heart Disease Aged 5 to 7 Years Recruiting NCT03931096

Search NIH Clinical Center for Coronary Heart Disease 5

Genetic Tests for Coronary Heart Disease 5

Genetic tests related to Coronary Heart Disease 5:

# Genetic test Affiliating Genes
1 Coronary Heart Disease 5 30 KALRN

Anatomical Context for Coronary Heart Disease 5

MalaCards organs/tissues related to Coronary Heart Disease 5:

42
Heart, Endothelial

Publications for Coronary Heart Disease 5

Articles related to Coronary Heart Disease 5:

(show all 37)
# Title Authors Year
1
Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and risk for early-onset coronary artery disease. ( 30902734 )
2019
2
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease. ( 30526649 )
2018
3
Serum Uric Acid as an Independent Risk Factor for the Presence and Severity of Early-Onset Coronary Artery Disease: A Case-Control Study. ( 30425752 )
2018
4
Association between Serum Kalirin Levels and the KALRN gene rs9289231 Polymorphism in Early-Onset Coronary Artery Disease. ( 30483314 )
2018
5
Non-invasive diagnosis of early-onset coronary artery disease based on cell type-specific gene expression analyses. ( 30372812 )
2018
6
Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population. ( 30402224 )
2018
7
Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease. ( 29874178 )
2018
8
Early-onset Coronary Artery Disease Clinical and Hereditary Aspects. ( 28874246 )
2017
9
Assessment of lipid profile and some risk factors of atherosclerosis in children whose parents had early onset coronary artery disease. ( 28097840 )
2017
10
Coronary Plaque Burden and Adverse Plaque Characteristics Are Increased in Healthy Relatives of Patients With Early Onset Coronary Artery Disease. ( 28109934 )
2017
11
A 45-SNP genetic risk score is increased in early-onset coronary artery disease but independent of familial disease clustering. ( 28142076 )
2017
12
Increased serum concentrations of asymmetric dimethylarginine (ADMA) in patients with early-onset coronary artery disease. ( 27884754 )
2017
13
Sirtuin 1 rs1467568 and rs7895833 in South African Indians with early-onset coronary artery disease. ( 27841908 )
2016
14
Frequency of familial hypercholesterolemia in patients with early-onset coronary artery disease admitted to a coronary care unit. ( 26350818 )
2015
15
Is plasma soluble CD36 associated with cardiovascular risk factors in early onset coronary artery disease patients? ( 25916834 )
2015
16
Common Variants in Promoter of ADTRP Associate with Early-Onset Coronary Artery Disease in a Southern Han Chinese Population. ( 26375920 )
2015
17
Lack of association between a common polymorphism of the endothelial lipase gene and early-onset coronary artery disease in a Chinese Han population. ( 24634127 )
2014
18
A novel molecular diagnostic marker for familial and early-onset coronary artery disease and myocardial infarction in the LRP8 gene. ( 24867879 )
2014
19
Matrix metalloproteinase-9 functional promoter polymorphism 1562C>T increased risk of early-onset coronary artery disease. ( 21559835 )
2012
20
GST polymorphisms and early-onset coronary artery disease in young South African Indians. ( 22748443 )
2012
21
Exon 11 deletion in the myocyte enhancer factor (MEF)2A and early onset coronary artery disease gene in a Sicilian family. ( 21450604 )
2011
22
Multifactor dimensionality reduction analysis of MTHFR, PAI-1, ACE, PON1, and eNOS gene polymorphisms in patients with early onset coronary artery disease. ( 21450592 )
2011
23
The angiotensin converting enzyme D allele is an independent risk factor for early onset coronary artery disease. ( 20655894 )
2010
24
A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease. ( 18459066 )
2009
25
Role of the fractalkine receptor CX3CR1 polymorphisms V249I and T280M as risk factors for early-onset coronary artery disease in patients with no classic risk factors. ( 18609106 )
2008
26
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. ( 17357071 )
2007
27
Improved prediction of early-onset coronary artery disease using APOE epsilon4, BChE-K, PPARgamma2 Pro12 and ENOS T-786C in a polygenic model. ( 16298355 )
2006
28
GATA2 is associated with familial early-onset coronary artery disease. ( 16934006 )
2006
29
The adiponectin gene SNP+276G>T associates with early-onset coronary artery disease and with lower levels of adiponectin in younger coronary artery disease patients (age <or=50 years). ( 15877215 )
2005
30
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. ( 15272420 )
2004
31
Relation between butyrylcholinesterase K variant, paraoxonase 1 (PON1) Q and R and apolipoprotein E epsilon 4 genes in early-onset coronary artery disease. ( 12074828 )
2002
32
MTHFR 677 C-->T mutation: a predictor of early-onset coronary artery disease risk. ( 11562338 )
2001
33
Relationship of the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene and early-onset coronary artery disease. ( 11579346 )
2001
34
Methylenetetrahydrofolate reductase genotypes and early-onset coronary artery disease. ( 10595952 )
1999
35
LDL-receptor gene polymorphism in patients with early-onset coronary artery disease. ( 10658347 )
1998
36
Relation of a common mutation in methylenetetrahydrofolate reductase to plasma homocysteine and early onset coronary artery disease. ( 9622772 )
1998
37
Relation of HFE gene mutations, high iron stores and early onset coronary artery disease. ( 9520858 )
1998

Variations for Coronary Heart Disease 5

ClinVar genetic disease variations for Coronary Heart Disease 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KALRN NC_000003.12: g.124055231T> G single nucleotide variant risk factor rs9289231 GRCh37 Chromosome 3, 123774078: 123774078
2 KALRN NC_000003.12: g.124055231T> G single nucleotide variant risk factor rs9289231 GRCh38 Chromosome 3, 124055231: 124055231
3 LDLR NM_000527.4(LDLR): c.241C> T (p.Arg81Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs730882078 GRCh37 Chromosome 19, 11213390: 11213390
4 LDLR NM_000527.4(LDLR): c.241C> T (p.Arg81Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs730882078 GRCh38 Chromosome 19, 11102714: 11102714
5 LDLR NM_000527.4(LDLR): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555800701 GRCh37 Chromosome 19, 11200226: 11200226
6 LDLR NM_000527.4(LDLR): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555800701 GRCh38 Chromosome 19, 11089550: 11089550

Expression for Coronary Heart Disease 5

Search GEO for disease gene expression data for Coronary Heart Disease 5.

Pathways for Coronary Heart Disease 5

GO Terms for Coronary Heart Disease 5

Sources for Coronary Heart Disease 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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