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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:gout
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Accession:DOID:13189 term browser browse the term
Definition:An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. (DO)
Synonyms:exact_synonym: Gouts;   articular gout
 related_synonym: GOUT SUSCEPTIBILITY 1;   GOUT SUSCEPTIBILITY 4;   GOUT1;   GOUT4;   UAQTL1;   UAQTL4;   Uric Acid Concentration, Serum, Quantitative Trait Locus 1;   Uric Acid Concentration, Serum, Quantitative Trait Locus 4;   gouty arthropathy
 primary_id: MESH:D006073
 alt_id: OMIM:138900;   OMIM:612671
 xref: ICD10CM:M10;   ICD9CM:274;   ICD9CM:274.0;   NCI:C34650
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
gout term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1cf APOBEC1 complementation factor ISO DNA:SNP: :rs10821905 (human) RGD PMID:28679452, PMID:28252667 RGD:13831119, RGD:13831120 NCBI chr 1:250,426,027...250,514,245
Ensembl chr 1:250,426,158...250,514,866
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNP:exon:rs2231142(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1
ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 1
CTD
ClinVar
OMIM
PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 PMID:20130569 PMID:20207952 PMID:20368174 PMID:20679960 PMID:21821808 PMID:22112610 PMID:22246505 PMID:22246507 PMID:22992668 PMID:23876492 PMID:23930675 PMID:25630984 PMID:25676789 PMID:26810134 PMID:28322941 PMID:29341237 PMID:29751792 PMID:31578528, PMID:19506252 RGD:13439747 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chr 1:101,138,237...101,151,320
Ensembl chr 1:101,138,248...101,151,320
JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 2:231,997,360...232,117,471
Ensembl chr 2:231,996,088...232,117,134
JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gout ClinVar PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Hp haptoglobin ISO RGD PMID:7281841 RGD:1626362 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il33 interleukin 33 ISO RGD PMID:30863362 RGD:40400717 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Nlrp1b NLR family, pyrin domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr10:57,755,957...57,847,867 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
G Slc17a3 solute carrier family 17 member 3 ISO ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 4 ClinVar
OMIM
PMID:20810651 NCBI chr17:43,518,760...43,545,160
Ensembl chr17:43,518,655...43,543,185
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
JBrowse link
G Umod uromodulin ISO ClinVar Annotator: match by term: Gout ClinVar PMID:30311386 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29071757 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by OMIM:162000
ClinVar
OMIM
PMID:12205338 PMID:12471200 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:15589826 PMID:15983957 PMID:16135773 PMID:16883323 PMID:20172860 PMID:22117067 PMID:22693617 PMID:24670410 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:30376835, PMID:12471200 RGD:737832 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
Gouty Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gouty arthritis ClinVar PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Umod uromodulin ISO ClinVar Annotator: match by term: Gouty arthritis ClinVar PMID:30311386 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 1:101,138,237...101,151,320
Ensembl chr 1:101,138,248...101,151,320
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT-related hyperuricemia
ClinVar Annotator: match by term: KELLEY-SEEGMILLER SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300323
OMIM
ClinVar
CTD
PMID:1301916 PMID:1551676 PMID:1934271 PMID:1937471 PMID:2071157 PMID:2246854 PMID:2323782 PMID:2347587 PMID:2397545 PMID:2738157 PMID:2896620 PMID:2928313 PMID:3358423 PMID:3384338 PMID:6204922 PMID:6309910 PMID:6706936 PMID:7987318 PMID:9288634 PMID:9799086 PMID:10737990 PMID:11018746 PMID:11891689 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16549399 PMID:17027311 PMID:17454734 PMID:19016344 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23348497 PMID:23975452 PMID:25136576 PMID:25481104 PMID:25741868 PMID:28045594 PMID:28492532 PMID:30311386 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        Joint Diseases 1166
          arthritis 916
            gout 22
              Familial Juvenile Hyperuricemic Nephropathy 1 1
              Gouty Arthritis 6
              HRPT-related hyperuricemia 2
              Urate-Binding Globulin, Decrease in 0
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone inflammation disease 943
              arthritis 916
                gout 22
                  Familial Juvenile Hyperuricemic Nephropathy 1 1
                  Gouty Arthritis 6
                  HRPT-related hyperuricemia 2
                  Urate-Binding Globulin, Decrease in 0
paths to the root