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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:uremia
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Accession:DOID:4676 term browser browse the term
Definition:A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.
Synonyms:exact_synonym: UREMIA OF renal ORIGIN;   Uremias
 primary_id: MESH:D014511;   RDO:0005752
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
uremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:peritoneal cavity lining RGD PMID:16757496 RGD:1625341 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO RGD PMID:807434 RGD:1598784 NCBI chr 4:118,186,031...118,269,106
Ensembl chr 4:118,176,241...118,268,835
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO protein:increased expression:aorta RGD PMID:18288101 RGD:2315619 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,588,659...79,649,648
JBrowse link
G ANGPT2 angiopoietin 2 ISO RGD PMID:18751736 RGD:2314180 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO RGD PMID:7933831 RGD:1300446 NCBI chr 1:240,522,835...240,584,354
Ensembl chr 1:240,522,837...240,584,918
JBrowse link
G BMP2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,215
JBrowse link
G COMT catechol-O-methyltransferase ISO protein:increased activity:erythrocyte RGD PMID:7437264 RGD:8662343 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (rat) RGD PMID:11518857 RGD:8662310 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12675867 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G FGF23 fibroblast growth factor 23 ISO RGD PMID:19339809 RGD:10044236 NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,037,739
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G HNRNPD heterogeneous nuclear ribonucleoprotein D treatment ISO RGD PMID:16291838 RGD:10042968 NCBI chr 8:135,844,492...135,862,633
Ensembl chr 8:135,844,487...135,862,633
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17347482 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G MGP matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764
JBrowse link
G MSTN myostatin ISO associated with Kidney Failure, Chronic RGD PMID:16807547 RGD:2303558 NCBI chr15:94,623,526...94,628,440
Ensembl chr15:94,620,269...94,628,546
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:kidney (rat) RGD PMID:21957179 RGD:5508758 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PTH parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:2051637 PMID:22902873 RGD:7242742 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:parathyroid gland RGD PMID:17514628 RGD:2292579 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,613...2,896,060
JBrowse link
G RETN resistin ISO protein:increased expression:adipose tissue RGD PMID:23058473 RGD:7207071 NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,513...40,459,686
JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18768591 NCBI chr 1:29,625,786...29,753,619
Ensembl chr 1:29,625,781...29,753,607
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,703...71,381,160
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,859,270...240,918,528
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased activity:brain (rat) RGD PMID:2875142 RGD:5128603 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,618...1,506,615
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 4:19,850,212...19,879,132 JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17347482 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VDR vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
RGD
ClinVar
PMID:12640381 PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 More... RGD:10449096 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,022,000...273,056,039
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 1:243,065,668...243,084,816
Ensembl chr 1:243,065,795...243,084,287
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,034,040
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:1976733 PMID:14639503 PMID:17517971 PMID:17634448 PMID:18325906 More... RGD:11040768 RGD:7364995 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 5:63,088,778...63,098,750 JBrowse link
G CD46 CD46 molecule, complement regulatory protein susceptibility
severity
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
protein:increased expression:peripheral blood mononuclear cell (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
RGD
CTD
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 More... RGD:11038684 RGD:11040768 RGD:11352768 RGD:11352810 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CFB complement factor B susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
OMIM
ClinVar
RGD
CTD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:16518403 More... RGD:11040768 RGD:7242707 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CFH complement factor H susceptibility ISO
IAGP
Membranoproliferative glomerulonephritis type II OMIM
OMIA
PMID:7883953 PMID:8238252 PMID:8323737 PMID:8533215 PMID:9141221 More...
G CFI complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 More... RGD:6906889 NCBI chr 8:112,430,824...112,470,844 JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,825...89,183,374
JBrowse link
G DGKE diacylglycerol kinase epsilon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
CTD
ClinVar
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:29590070 NCBI chr12:33,141,439...33,172,412
Ensembl chr12:33,141,505...33,172,407
JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,654
JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,191...7,110,555
JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr15:118,627,734...118,688,005
Ensembl chr15:118,629,238...118,687,940
JBrowse link
G THBD thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:7811989 PMID:9157575 PMID:9236408 PMID:10460600 PMID:11245641 More... RGD:11038684 RGD:11038691 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757
JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO RGD PMID:17220320 RGD:7241820 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,885...39,493,370
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD46 CD46 molecule, complement regulatory protein susceptibility ISO DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
RGD PMID:14566051 PMID:14615110 PMID:16189652 RGD:11352767 RGD:11352770 RGD:11531138 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CFH complement factor H ISO DNA:mutations, polymorphisms:promoter, exon:multiple RGD PMID:14583443 RGD:11041164
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr12:33,141,439...33,172,412
Ensembl chr12:33,141,505...33,172,407
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
JBrowse link
G HP haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,803,165...51,951,383
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134 RGD:6909171
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034
G MBL2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,769...17,302,590
JBrowse link
G PLA2G7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,843...41,531,331
JBrowse link
G PLAT plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G THBD thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13633
    disease of anatomical entity 13301
      Urogenital Diseases 3841
        urinary system disease 1709
          kidney disease 1502
            uremia 65
              Azotemia 1
              hemolytic-uremic syndrome + 34
              uremic neuropathy 0
Path 2
Term Annotations click to browse term
  disease 13633
    disease of anatomical entity 13301
      Urogenital Diseases 3841
        urinary system disease 1709
          kidney disease 1502
            kidney failure 447
              uremia 65
                Azotemia 1
                hemolytic-uremic syndrome + 34
                uremic neuropathy 0
paths to the root