MCID: LWD007
MIFTS: 8

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7

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 57 6
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)

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).

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...

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

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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