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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
 narrow_synonym: renal overload-type gout
 related_synonym: GOUT SUSCEPTIBILITY 1;   GOUT SUSCEPTIBILITY 4;   GOUT1;   GOUT4;   gouty arthropathy
 primary_id: MESH:D006073
 alt_id: OMIM:138900;   OMIM:612671
 xref: EFO:0004274;   EFO:0021525;   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 1:229,736,037...229,823,499
Ensembl chr 1:229,736,106...229,824,354 		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		 CTD
ClinVar
OMIM
RGD		 PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 More... RGD:13439747 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131 		JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gout ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Hp haptoglobin ISO RGD PMID:7281841 RGD:1626362 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il33 interleukin 33 ISO RGD PMID:30863362 RGD:40400717 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Slc17a3 solute carrier family 17 member 3 susceptibility ISO ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 4
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:20810651 NCBI chr17:41,270,804...41,300,132
Ensembl chr17:41,270,812...41,295,256 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36850003 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29071757 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 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: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... RGD:737832 NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302 		JBrowse link
Gouty Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		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 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 More... NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        arthropathy 1471
          Crystal Arthropathies 29
            gout 27
              Autosomal Dominant Tubulointerstitial Kidney Disease 1 1
              Gouty Arthritis 4
              HRPT-related hyperuricemia 7
              Urate-Binding Globulin, Decrease in 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone inflammation disease 1492
              arthropathy 1471
                Crystal Arthropathies 29
                  gout 27
                    Autosomal Dominant Tubulointerstitial Kidney Disease 1 1
                    Gouty Arthritis 4
                    HRPT-related hyperuricemia 7
                    Urate-Binding Globulin, Decrease in 0
paths to the root