LDLCQ6
MCID: LWD006
MIFTS: 14

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

Categories: Genetic diseases

Aliases & Classifications for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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

Name: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 58 30 6
Ldlcq6 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
low density lipoprotein cholesterol level quantitative trait locus 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613589
MedGen 43 C3150834
SNOMED-CT via HPO 70 263681008

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

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.

Description from OMIM: 613589

Related Diseases for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

Diseases in the Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 family:

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8

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

Symptoms via clinical synopsis from OMIM:

58
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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 CELSR2 SORT1

Drugs & Therapeutics for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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

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

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 30 SORT1

Anatomical Context for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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

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

# Title Authors Year
1
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. ( 20686566 )
2010
2
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. ( 19198609 )
2009
3
Genomewide association analysis of coronary artery disease. ( 17634449 )
2007

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SORT1 NM_001408.2(CELSR2): c.*919G> T single nucleotide variant association rs12740374 GRCh37 Chromosome 1, 109817590: 109817590
2 SORT1 NM_001408.2(CELSR2): c.*919G> T single nucleotide variant association rs12740374 GRCh38 Chromosome 1, 109274968: 109274968

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

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

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

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

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 CELSR2 SORT1
2 multicellular organism development GO:0007275 8.62 CELSR2 SORT1

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

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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