MCID: LWD008
MIFTS: 7

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8

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)

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 7 family:

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8

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

Clinical features from OMIM:

618079

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...

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 Variation Type Significance SNP ID Assembly Location
1 LIMA1 NM_001113546.1(LIMA1): c.916_923del (p.Lys306Cysfs) deletion association GRCh37 Chromosome 12, 50594609: 50594616
2 LIMA1 NM_001113546.1(LIMA1): c.916_923del (p.Lys306Cysfs) deletion association GRCh38 Chromosome 12, 50200826: 50200833
3 LIMA1 NM_001113546.1(LIMA1): c.73C> A (p.Leu25Ile) single nucleotide variant association rs140372565 GRCh37 Chromosome 12, 50642462: 50642462
4 LIMA1 NM_001113546.1(LIMA1): c.73C> A (p.Leu25Ile) single nucleotide variant association rs140372565 GRCh38 Chromosome 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...

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74 UMLS via Orphanet
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