MCID: LWD006
MIFTS: 12

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6

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 6:

Name: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 57 29 6
Ldlcq6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
low density lipoprotein cholesterol level quantitative trait locus 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613589
MedGen 42 C3150834
SNOMED-CT via HPO 69 263681008

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

MalaCards based summary : Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6, is also known as ldlcq6. An important gene associated with Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 is SORT1 (Sortilin 1). Related phenotype is Decreased free cholesterol.

Description from OMIM: 613589

Related Diseases for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

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

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
variable plasma ldl-c levels
very low-density lipoprotein (vldl) particle levels


Clinical features from OMIM:

613589

GenomeRNAi Phenotypes related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 CELSR2 SORT1

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 6

Genetic Tests for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

Genetic tests related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

# Genetic test Affiliating Genes
1 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 29 SORT1

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...

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 6.

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

GO Terms for Low Density Lipoprotein Cholesterol Level Quantitative Trait...

Biological processes related to Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.96 CELSR2 SORT1
2 G-protein coupled receptor signaling pathway GO:0007186 8.62 CELSR2 SORT1

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
Content
Loading form....