LDLCQ7
MCID: LWD007
MIFTS: 11

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

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 7:

Name: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 57 5
Low Density Lipoprotein Cholesterol Level Qtl 7 57
Ezetimibe, Nonresponse to 57
Ldlcq7 57

Classifications:



External Ids:

OMIM® 57 617966

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

OMIM®: 57 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) (Updated 08-Dec-2022)

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...

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

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

Clinical features from OMIM®:

617966 (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 7

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

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

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

MalaCards : Heart

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

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

# Title Authors PMID Year
1
Mutations in NPC1L1 and coronary heart disease. 57 5
25714173 2015
2
Inactivating mutations in NPC1L1 and protection from coronary heart disease. 57 5
25390462 2014
3
Biological, clinical and population relevance of 95 loci for blood lipids. 57
20686565 2010
4
The g.-762T>C polymorphism of the NPC1L1 gene is common in Chinese and contributes to a higher promoter activity and higher serum cholesterol levels. 57
19265861 2009
5
Cholesterol homeostasis by the intestine: lessons from Niemann-Pick C1 Like 1 [NPC1L1). 57
18585981 2008
6
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients. 57
17140581 2007
7
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. 57
16449388 2006
8
Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment. 57
16297596 2005
9
Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe. 57
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:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPC1L1 NM_001101648.2(NPC1L1):c.1216C>T (p.Arg406Ter) SNV Association
523613 rs145297799 GRCh37: 7:44578780-44578780
GRCh38: 7:44539181-44539181

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...

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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