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LDLCQ6
MCID: LWD006
MIFTS: 13

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 56 29 6
Ldlcq6 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
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 56 613589
MedGen 41 C3150834
SNOMED-CT via HPO 68 263681008
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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:

56
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. 56 6
20686566 2010
2
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 56 6
19198609 2009
3
Genomewide association analysis of coronary artery disease. 56 6
17634449 2007
4
Biological, clinical and population relevance of 95 loci for blood lipids. 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SORT1 NM_001408.3(CELSR2):c.*919G>TSNV association 7081 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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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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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