Genopathy
Gene-Disorder Association · Article
Gene
NPC1L1
NPC1 Like Intracellular Cholesterol Transporter 1
Disorder
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7
First reported 2005
Key publication · disorder Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment.Genomics · 2005
Manually curated
Association Review

In brief

The association between NPC1L1 (NPC1 Like Intracellular Cholesterol Transporter 1) and Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis.

Sources 1
Clinical variants 2
Symptoms 0
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
NPC1L1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7

The disorder

1 database identifier

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

2 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Provenance

References & sources

3 references

Every source and publication cited across this dossier, as one numbered reference list.

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