TGQTL
MCID: PLS035
MIFTS: 13

Plasma Triglyceride Level Quantitative Trait Locus (TGQTL)

Categories: Genetic diseases

Aliases & Classifications for Plasma Triglyceride Level Quantitative Trait Locus

MalaCards integrated aliases for Plasma Triglyceride Level Quantitative Trait Locus:

Name: Plasma Triglyceride Level Quantitative Trait Locus 57 29 6
Plasma Triglyceride Level, Quantitative Trait Locus 39
Plasma Triglyceride Level Qtl, Low 57
Tgqtl 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
plasma triglyceride level quantitative trait locus:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615881
MedGen 41 C4014553
SNOMED-CT via HPO 68 263681008

Summaries for Plasma Triglyceride Level Quantitative Trait Locus

MalaCards based summary : Plasma Triglyceride Level Quantitative Trait Locus, is also known as plasma triglyceride level, quantitative trait locus. An important gene associated with Plasma Triglyceride Level Quantitative Trait Locus is ANGPTL4 (Angiopoietin Like 4).

More information from OMIM: 615881

Related Diseases for Plasma Triglyceride Level Quantitative Trait Locus

Symptoms & Phenotypes for Plasma Triglyceride Level Quantitative Trait Locus

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
high plasma triglyceride level
low plasma triglyceride level

Clinical features from OMIM®:

615881 (Updated 05-Apr-2021)

Drugs & Therapeutics for Plasma Triglyceride Level Quantitative Trait Locus

Search Clinical Trials , NIH Clinical Center for Plasma Triglyceride Level Quantitative Trait Locus

Genetic Tests for Plasma Triglyceride Level Quantitative Trait Locus

Genetic tests related to Plasma Triglyceride Level Quantitative Trait Locus:

# Genetic test Affiliating Genes
1 Plasma Triglyceride Level Quantitative Trait Locus 29 ANGPTL4

Anatomical Context for Plasma Triglyceride Level Quantitative Trait Locus

Publications for Plasma Triglyceride Level Quantitative Trait Locus

Articles related to Plasma Triglyceride Level Quantitative Trait Locus:

# Title Authors PMID Year
1
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease. 6 57
26933753 2016
2
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. 6 57
19075393 2009
3
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. 57
26934567 2016
4
Genetic variation in ANGPTL4 provides insights into protein processing and function. 6
19270337 2009
5
ANGPTL4 E40K and T266M: effects on plasma triglyceride and HDL levels, postprandial responses, and CHD risk. 6
18974381 2008
6
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. 6
17322881 2007

Variations for Plasma Triglyceride Level Quantitative Trait Locus

ClinVar genetic disease variations for Plasma Triglyceride Level Quantitative Trait Locus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANGPTL4 NM_139314.3(ANGPTL4):c.118G>A (p.Glu40Lys) SNV association 4712 rs116843064 GRCh37: 19:8429323-8429323
GRCh38: 19:8364439-8364439
2 ANGPTL4 NM_139314.3(ANGPTL4):c.649A>T (p.Lys217Ter) SNV association 139626 rs587777517 GRCh37: 19:8434204-8434204
GRCh38: 19:8369320-8369320
3 ANGPTL4 NM_139314.3(ANGPTL4):c.361del (p.His121fs) Deletion Pathogenic 1027741 GRCh37: 19:8430879-8430879
GRCh38: 19:8365995-8365995

Expression for Plasma Triglyceride Level Quantitative Trait Locus

Search GEO for disease gene expression data for Plasma Triglyceride Level Quantitative Trait Locus.

Pathways for Plasma Triglyceride Level Quantitative Trait Locus

GO Terms for Plasma Triglyceride Level Quantitative Trait Locus

Sources for Plasma Triglyceride Level Quantitative Trait Locus

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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