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LDLCQ6
MCID: LWD006
MIFTS: 14

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 (LDLCQ6)

Categories: Genetic diseases
Genes Variations Publications Symptoms & Phenotypes
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Aliases & Classifications for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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MalaCards integrated aliases for Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

Name: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 57 29 6
Ldlcq6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
low density lipoprotein cholesterol level quantitative trait locus 6:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 613589
MedGen 42 C3150834
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Summaries for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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MalaCards based summary : Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6, is also known as ldlcq6. An important gene associated with Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 is SORT1 (Sortilin 1). Related phenotype is Decreased free cholesterol.

More information from OMIM: 613589
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Related Diseases for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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Diseases in the Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 family:

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8

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Symptoms & Phenotypes for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
variable plasma ldl-c levels
very low-density lipoprotein (vldl) particle levels

Clinical features from OMIM:

613589

GenomeRNAi Phenotypes related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 CELSR2 SORT1
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Drugs & Therapeutics for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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Search Clinical Trials , NIH Clinical Center for Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6

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Genetic Tests for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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Genetic tests related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

# Genetic test Affiliating Genes
1 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 29 SORT1
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Anatomical Context for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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Publications for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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Articles related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

# Title Authors PMID Year
1
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. 8 71
20686566 2010
2
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 8 71
19198609 2009
3
Genomewide association analysis of coronary artery disease. 8 71
17634449 2007
4
Biological, clinical and population relevance of 95 loci for blood lipids. 8
20686565 2010
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Variations for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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ClinVar genetic disease variations for Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SORT1 NM_001408.3(CELSR2): c.*919G> T single nucleotide variant association rs12740374 1:109817590-109817590 1:109274968-109274968
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Expression for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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Search GEO for disease gene expression data for Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6.
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Pathways for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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GO Terms for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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Biological processes related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 8.96 SORT1 CELSR2
2 multicellular organism development GO:0007275 8.62 SORT1 CELSR2
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Sources for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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