UAQTL4
MCID: URC015
MIFTS: 15

Uric Acid Concentration, Serum, Quantitative Trait Locus 4 (UAQTL4)

Categories: Genetic diseases

Aliases & Classifications for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

MalaCards integrated aliases for Uric Acid Concentration, Serum, Quantitative Trait Locus 4:

Name: Uric Acid Concentration, Serum, Quantitative Trait Locus 4 57 29 13 6 39
Gout Susceptibility 4; Gout4 57
Gout Susceptibility 4 57
Uaqtl4 57
Gout4 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
uric acid concentration, serum, quantitative trait locus 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612671
MedGen 41 C2675207

Summaries for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

MalaCards based summary : Uric Acid Concentration, Serum, Quantitative Trait Locus 4, is also known as gout susceptibility 4; gout4. An important gene associated with Uric Acid Concentration, Serum, Quantitative Trait Locus 4 is SLC17A3 (Solute Carrier Family 17 Member 3). Related phenotypes are hyperuricemia and gout

More information from OMIM: 612671

Related Diseases for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Symptoms & Phenotypes for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Human phenotypes related to Uric Acid Concentration, Serum, Quantitative Trait Locus 4:

31
# Description HPO Frequency HPO Source Accession
1 hyperuricemia 31 HP:0002149
2 gout 31 HP:0001997

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
hyperuricemia

Skeletal:
gout

Clinical features from OMIM®:

612671 (Updated 20-May-2021)

Drugs & Therapeutics for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Search Clinical Trials , NIH Clinical Center for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Genetic Tests for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Genetic tests related to Uric Acid Concentration, Serum, Quantitative Trait Locus 4:

# Genetic test Affiliating Genes
1 Uric Acid Concentration, Serum, Quantitative Trait Locus 4 29 SLC17A3

Anatomical Context for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Publications for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Articles related to Uric Acid Concentration, Serum, Quantitative Trait Locus 4:

# Title Authors PMID Year
1
Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate. 57 6
20810651 2010
2
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. 57
18834626 2008

Variations for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

ClinVar genetic disease variations for Uric Acid Concentration, Serum, Quantitative Trait Locus 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC17A3 NM_001098486.2(SLC17A3):c.911T>C (p.Phe304Ser) SNV association 36975 rs387907256 GRCh37: 6:25850769-25850769
GRCh38: 6:25850541-25850541
2 SLC17A3 NM_001098486.2(SLC17A3):c.202A>C (p.Asn68His) SNV risk factor 36976 rs387907257 GRCh37: 6:25862562-25862562
GRCh38: 6:25862334-25862334

Expression for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Search GEO for disease gene expression data for Uric Acid Concentration, Serum, Quantitative Trait Locus 4.

Pathways for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

GO Terms for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

Sources for Uric Acid Concentration, Serum, Quantitative Trait Locus 4

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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