LDLCQ8
MCID: LWD008
MIFTS: 9

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

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 8:

Name: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 57 6
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 05-Apr-2021)

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 05-Apr-2021)

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. 6 57
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:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIMA1 NM_001113546.2(LIMA1):c.916_923del (p.Lys306fs) Deletion association 559499 rs1555205375 GRCh37: 12:50594609-50594616
GRCh38: 12:50200826-50200833
2 LIMA1 NM_001113546.2(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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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