CHDS5
MCID: CRN214
MIFTS: 23

Coronary Heart Disease 5 (CHDS5)

Categories: Genetic diseases

Aliases & Classifications for Coronary Heart Disease 5

MalaCards integrated aliases for Coronary Heart Disease 5:

Name: Coronary Heart Disease 5 57 75 29 6
Coronary Heart Disease, Susceptibility to, 5 57 13 73
Chds5 57 75
Heart, Coronary, Disease, Susceptibility to, Type 5 40
Coronary Artery Disease, Early-Onset 57
Coronary Artery Disease Early-Onset 75
Early-Onset Coronary Artery Disease 6

Classifications:



External Ids:

OMIM 57 608901
MedGen 42 C1837173
MeSH 44 D003324
UMLS 73 C1837173

Summaries for Coronary Heart Disease 5

UniProtKB/Swiss-Prot : 75 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 arteries, anomalies of. 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

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

Search Clinical Trials , 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 29 KALRN

Anatomical Context for Coronary Heart Disease 5

MalaCards organs/tissues related to Coronary Heart Disease 5:

41
Heart, Endothelial

Publications for Coronary Heart Disease 5

Articles related to Coronary Heart Disease 5:

(show all 30)
# Title Authors Year
1
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease. ( 30526649 )
2018
2
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
3
Association between Serum Kalirin Levels and the KALRN gene rs9289231 Polymorphism in Early-Onset Coronary Artery Disease. ( 30483314 )
2018
4
Non-invasive diagnosis of early-onset coronary artery disease based on cell type-specific gene expression analyses. ( 30372812 )
2018
5
Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population. ( 30402224 )
2018
6
Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease. ( 29874178 )
2018
7
Sirtuin 1 rs1467568 and rs7895833 in South African Indians with early-onset coronary artery disease. ( 27841908 )
2016
8
Is plasma soluble CD36 associated with cardiovascular risk factors in early onset coronary artery disease patients? ( 25916834 )
2015
9
Common Variants in Promoter of ADTRP Associate with Early-Onset Coronary Artery Disease in a Southern Han Chinese Population. ( 26375920 )
2015
10
Frequency of familial hypercholesterolemia in patients with early-onset coronary artery disease admitted to a coronary care unit. ( 26350818 )
2015
11
A novel molecular diagnostic marker for familial and early-onset coronary artery disease and myocardial infarction in the LRP8 gene. ( 24867879 )
2014
12
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
13
Matrix metalloproteinase-9 functional promoter polymorphism 1562C>T increased risk of early-onset coronary artery disease. ( 21559835 )
2012
14
GST polymorphisms and early-onset coronary artery disease in young South African Indians. ( 22748443 )
2012
15
Exon 11 deletion in the myocyte enhancer factor (MEF)2A and early onset coronary artery disease gene in a Sicilian family. ( 21450604 )
2011
16
Multifactor dimensionality reduction analysis of MTHFR, PAI-1, ACE, PON1, and eNOS gene polymorphisms in patients with early onset coronary artery disease. ( 21450592 )
2011
17
The angiotensin converting enzyme D allele is an independent risk factor for early onset coronary artery disease. ( 20655894 )
2010
18
A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease. ( 18459066 )
2009
19
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
20
GATA2 is associated with familial early-onset coronary artery disease. ( 16934006 )
2006
21
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
22
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
23
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. ( 15272420 )
2004
24
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
25
Relationship of the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene and early-onset coronary artery disease. ( 11579346 )
2001
26
MTHFR 677 C-->T mutation: a predictor of early-onset coronary artery disease risk. ( 11562338 )
2001
27
Methylenetetrahydrofolate reductase genotypes and early-onset coronary artery disease. ( 10595952 )
1999
28
Relation of HFE gene mutations, high iron stores and early onset coronary artery disease. ( 9520858 )
1998
29
LDL-receptor gene polymorphism in patients with early-onset coronary artery disease. ( 10658347 )
1998
30
Relation of a common mutation in methylenetetrahydrofolate reductase to plasma homocysteine and early onset coronary artery disease. ( 9622772 )
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 GRCh37 Chromosome 19, 11200226: 11200226
6 LDLR NM_000527.4(LDLR): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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