LDLCQ7
MCID: LWD007
MIFTS: 12

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 (LDLCQ7)

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 7:

Name: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 58 30 6
Low Density Lipoprotein Cholesterol Level Qtl 7 58
Ezetimibe, Nonresponse to 58
Ldlcq7 58

Classifications:



External Ids:

OMIM 58 617966

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

OMIM : 58 LDLCQ7 is a quantitative trait affecting LDL levels that is effected through the NPC1L1 gene, which is responsible for the intestinal absorption of cholesterol. NPC1L1 is the molecular target for the drug ezetimibe, and variants in this gene affect response to this drug. (617966)

MalaCards based summary : Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7, is also known as low density lipoprotein cholesterol level qtl 7. An important gene associated with Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 is NPC1L1 (NPC1 Like Intracellular Cholesterol Transporter 1). Affiliated tissues include heart.

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

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

Clinical features from OMIM:

617966

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 7

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

Genetic tests related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7:

# Genetic test Affiliating Genes
1 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 30 NPC1L1

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

MalaCards organs/tissues related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7:

42
Heart

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

Articles related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7:

# Title Authors Year
1
Mutations in NPC1L1 and coronary heart disease. ( 25714173 )
2015
2
Inactivating mutations in NPC1L1 and protection from coronary heart disease. ( 25390462 )
2014
3
Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe. ( 15679830 )
2005

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

ClinVar genetic disease variations for Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPC1L1 NPC1L1, ARG406TER (rs145297799) undetermined variant association

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 7.

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...

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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