LDLCQ6
MCID: LWD006
MIFTS: 11

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

Categories: Genetic diseases
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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 57 28 5
Ldlcq6 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 613589
MedGen 40 C3150834

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).

More information from OMIM: 613589

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Laboratory Abnormalities:
variable plasma ldl-c levels
very low-density lipoprotein (vldl) particle levels

Clinical features from OMIM®:

613589 (Updated 08-Dec-2022)

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 28 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 PMID Year
1
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. 57 5
20686566 2010
2
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 57 5
19198609 2009
3
Genomewide association analysis of coronary artery disease. 57 5
17634449 2007
4
Biological, clinical and population relevance of 95 loci for blood lipids. 57
20686565 2010

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

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SORT1, LOC110121285, CELSR2 NM_001408.3(CELSR2):c.*919G>T SNV Association
7081 rs12740374 GRCh37: 1:109817590-109817590
GRCh38: 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...

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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