LDLCQ8
MCID: LWD008
MIFTS: 8

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 (LDLCQ8)

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 8:

Name: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 57 5
Low Density Lipoprotein Cholesterol Level Qtl 8 57
Ldlcq8 57

Classifications:



External Ids:

OMIM® 57 618079

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

OMIM®: 57 LDLCQ8 is a quantitative trait affecting LDL cholesterol levels that is effected through the LIMA1 gene, which has a key role in intestinal cholesterol absorption. Individuals with LIMA1 mutations that impair protein function have reduced plasma LDL cholesterol levels and reduced cholesterol absorption (Zhang et al., 2018). (618079) (Updated 08-Dec-2022)

MalaCards based summary: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8, is also known as low density lipoprotein cholesterol level qtl 8. An important gene associated with Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 is LIMA1 (LIM Domain And Actin Binding 1).

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®:

618079 (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 8

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...

Articles related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8:

# Title Authors PMID Year
1
A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption. 57 5
29880681 2018

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

ClinVar genetic disease variations for Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIMA1 NM_016357.5(LIMA1):c.916_923del (p.Lys306fs) DEL Association
559499 rs1555205375 GRCh37: 12:50594609-50594616
GRCh38: 12:50200826-50200833
2 LIMA1 NM_016357.5(LIMA1):c.73C>A (p.Leu25Ile) SNV Association
559500 rs140372565 GRCh37: 12:50642462-50642462
GRCh38: 12:50248679-50248679

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 8.

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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