UAQTL4
MCID: URC015
MIFTS: 13

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 58 30 13 6 41
Gout Susceptibility 4; Gout4 58
Gout Susceptibility 4 58
Uaqtl4 58
Gout4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
uric acid concentration, serum, quantitative trait locus 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612671
MedGen 43 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

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 hyperuricemia 33 HP:0002149
2 gout 33 HP:0001997

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hyperuricemia

Skeletal:
gout

Clinical features from OMIM:

612671

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 30 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 Year
1
Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate. ( 20810651 )
2010

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 Variation Type Significance SNP ID Assembly Location
1 SLC17A3 NM_001098486.1(SLC17A3): c.911T> C (p.Phe304Ser) single nucleotide variant association rs387907256 GRCh37 Chromosome 6, 25850769: 25850769
2 SLC17A3 NM_001098486.1(SLC17A3): c.911T> C (p.Phe304Ser) single nucleotide variant association rs387907256 GRCh38 Chromosome 6, 25850541: 25850541
3 SLC17A3 NM_001098486.1(SLC17A3): c.202A> C (p.Asn68His) single nucleotide variant risk factor rs387907257 GRCh37 Chromosome 6, 25862562: 25862562
4 SLC17A3 NM_001098486.1(SLC17A3): c.202A> C (p.Asn68His) single nucleotide variant risk factor rs387907257 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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