GOUT4
MCID: URC015
MIFTS: 13

Uric Acid Concentration, Serum, Quantitative Trait Locus 4 (GOUT4)

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 40
Gout Susceptibility 4; Gout4 57
Gout Susceptibility 4 57
Uaqtl4 57
Gout4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
uric acid concentration, serum, quantitative trait locus 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612671
MedGen 42 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 phenotype is 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

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hyperuricemia

Skeletal:
gout


Clinical features from OMIM:

612671

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

32
# Description HPO Frequency HPO Source Accession
1 gout 32 HP:0001997

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....