GLYCQTL
MCID: GLY102
MIFTS: 13

Glycerol Quantitative Trait Locus (GLYCQTL)

Categories: Genetic diseases

Aliases & Classifications for Glycerol Quantitative Trait Locus

MalaCards integrated aliases for Glycerol Quantitative Trait Locus:

Name: Glycerol Quantitative Trait Locus 57
Glycerol Release During Exercise, Defective 57 29 6 39
Glycqtl 57

Characteristics:

OMIM®:

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


HPO:

31
glycerol quantitative trait locus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614411
MedGen 41 C3280715
SNOMED-CT via HPO 68 258211005

Summaries for Glycerol Quantitative Trait Locus

MalaCards based summary : Glycerol Quantitative Trait Locus, is also known as glycerol release during exercise, defective. An important gene associated with Glycerol Quantitative Trait Locus is AQP7 (Aquaporin 7). Affiliated tissues include adipocyte.

More information from OMIM: 614411

Related Diseases for Glycerol Quantitative Trait Locus

Symptoms & Phenotypes for Glycerol Quantitative Trait Locus

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Metabolic Features:
defective glycerol release during exercise
normal plasma glycerol level at rest

Clinical features from OMIM®:

614411 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glycerol Quantitative Trait Locus

Search Clinical Trials , NIH Clinical Center for Glycerol Quantitative Trait Locus

Genetic Tests for Glycerol Quantitative Trait Locus

Genetic tests related to Glycerol Quantitative Trait Locus:

# Genetic test Affiliating Genes
1 Glycerol Release During Exercise, Defective 29 AQP7

Anatomical Context for Glycerol Quantitative Trait Locus

MalaCards organs/tissues related to Glycerol Quantitative Trait Locus:

40
Adipocyte

Publications for Glycerol Quantitative Trait Locus

Articles related to Glycerol Quantitative Trait Locus:

# Title Authors PMID Year
1
Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes. 6 57
17566090 2007
2
Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation. 6 57
11952783 2002
3
Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect. 6
22899094 2013
4
A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities. 57
17351148 2007

Variations for Glycerol Quantitative Trait Locus

ClinVar genetic disease variations for Glycerol Quantitative Trait Locus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AQP7 NM_001170.1(AQP7):c.791G>T (p.Gly264Val) SNV Affects 6732 rs62542743 GRCh37: 9:33385241-33385241
GRCh38: 9:33385243-33385243

Expression for Glycerol Quantitative Trait Locus

Search GEO for disease gene expression data for Glycerol Quantitative Trait Locus.

Pathways for Glycerol Quantitative Trait Locus

GO Terms for Glycerol Quantitative Trait Locus

Sources for Glycerol 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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