HDLCQ7
MCID: HGH042
MIFTS: 8

High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 (HDLCQ7)

Categories: Genetic diseases

Aliases & Classifications for High Density Lipoprotein Cholesterol Level Quantitative Trait...

MalaCards integrated aliases for High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7:

Name: High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 57 6
Hdlcq7 57

Classifications:



External Ids:

OMIM® 57 618979

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

MalaCards based summary : High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7, is also known as hdlcq7. An important gene associated with High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 is EDN1 (Endothelin 1).

More information from OMIM: 618979

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

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

Clinical features from OMIM®:

618979 (Updated 05-Apr-2021)

Drugs & Therapeutics for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Search Clinical Trials , NIH Clinical Center for High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7

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

Anatomical Context for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Publications for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Articles related to High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7:

# Title Authors PMID Year
1
Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease. 57
18288492 2008
2
Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. 57
17357073 2007
3
Variability of the genetic contribution of Quebec population founders associated to some deleterious genes. 57
7717408 1995

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

ClinVar genetic disease variations for High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDN1 NM_001955.5(EDN1):c.594G>T (p.Lys198Asn) SNV Benign 16652 rs5370 GRCh37: 6:12296255-12296255
GRCh38: 6:12296022-12296022

Expression for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Search GEO for disease gene expression data for High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7.

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

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

Sources for High 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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