Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 613589

MedGen ⁴⁰ C3150834

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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

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

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...

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)

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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

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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

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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...

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	Musunuru K...Rader DJ	20686566	2010
2	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. ⁵⁷ ⁵	Myocardial Infarction Genetics Consortium...Altshuler D	19198609	2009
3	Genomewide association analysis of coronary artery disease. ⁵⁷ ⁵	Samani NJ...WTCCC and the Cardiogenics Consortium	17634449	2007
4	Biological, clinical and population relevance of 95 loci for blood lipids. ⁵⁷	Teslovich TM...Kathiresan S	20686565	2010

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

Genes related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SORT1	Sortilin 1	Protein Coding	650	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷

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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

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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.

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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...

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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²³ GeneHancer via GeneCards

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²⁶ GEO DataSets

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³³ ICD11

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³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

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⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

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⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LDLCQ6 MCID: LWD006 MIFTS: 11	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 (LDLCQ6) Categories: Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Publications Symptoms & Phenotypes Expand all tables

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

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

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

Characteristics:

Inheritance:

Classifications:

External Ids:

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

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

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

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

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:

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

Genes related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 (1 elite genes):

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

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

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

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...