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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
 xref: EFO:1001226
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 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO RGD PMID:807434 RGD:1598784 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO protein:increased expression:aorta RGD PMID:18288101 RGD:2315619 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:omentum (rat) RGD PMID:18751736 RGD:2314180 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO RGD PMID:7933831 RGD:1300446 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G BMP2 bone morphogenetic protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G COMT catechol-O-methyltransferase IDA protein:increased activity:erythrocyte RGD PMID:7437264 RGD:8662343 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (rat) RGD PMID:11518857 RGD:8662310 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:12675867 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G FGF23 fibroblast growth factor 23 ISO RGD PMID:19339809 RGD:10044236 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G HNRNPD heterogeneous nuclear ribonucleoprotein D treatment ISO RGD PMID:16291838 RGD:10042968 NCBI chr 4:82,352,498...82,373,991
Ensembl chr 4:82,352,498...82,374,503 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17347482 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G KDR kinase insert domain receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G MGP matrix Gla protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MSTN myostatin ISO associated with Kidney Failure, Chronic RGD PMID:16871256 RGD:2303558 NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:kidney (rat) RGD PMID:21957179 RGD:5508758 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PTH parathyroid hormone ISO
EXP		 associated with Renal Insufficiency, Chronic; protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:2051637 PMID:22902873 RGD:7242742 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:parathyroid gland RGD PMID:17514628 RGD:2292579 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216 		JBrowse link
G RETN resistin IEP protein:increased expression:adipose tissue RGD PMID:23058473 RGD:7207071 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455 		JBrowse link
G RUNX2 RUNX family transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18768591 NCBI chr 6:134,169,256...134,318,112
Ensembl chr 6:134,169,248...134,318,112 		JBrowse link
G SPARC secreted protein acidic and cysteine rich EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G SPP1 secreted phosphoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased activity:brain (rat) RGD PMID:2875142 RGD:5128603 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17347482 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
G VDR vitamin D receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 IEP
IAGP		 protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome		 ClinVar
RGD		 PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 More... RGD:10449096 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase IAGP ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400 		JBrowse link
G C2 complement C2 IAGP ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1		 ClinVar PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C3 complement C3 susceptibility ISO
IAGP
EXP		 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 More... RGD:7364995, RGD:11040768 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C3AR1 complement C3a receptor 1 IAGP ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359 		JBrowse link
G CD46 CD46 molecule severity
susceptibility		 IAGP
EXP
IEP		 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)		 ClinVar
OMIM
CTD
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9551389 PMID:14566051 More... RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFB complement factor B susceptibility IAGP
EXP		 DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple		 OMIM
ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... RGD:7242707, RGD:11040768 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H susceptibility IAGP
EXP
IEP
IDA
ISO
IMP		 DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:deletion:Cds:
DNA:SNPs,Haplotype::		 OMIM
ClinVar
CTD
RGD		 PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CFHR1 complement factor H related 1 susceptibility IAGP
EXP		 DNA:deletion
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1		 OMIM
ClinVar
CTD
RGD		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159 		JBrowse link
G CFHR2 complement factor H related 2 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 1:196,943,738...196,959,622
Ensembl chr 1:196,943,738...196,959,622 		JBrowse link
G CFHR3 complement factor H related 3 susceptibility IAGP ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar
OMIM		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:19745068 PMID:20843825 More... NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407 		JBrowse link
G CFHR4 complement factor H related 4 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:196,888,052...196,918,633
Ensembl chr 1:196,888,014...196,918,795 		JBrowse link
G CFHR5 complement factor H related 5 IAGP ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar PMID:16299065 PMID:17000000 PMID:19365580 PMID:24033266 PMID:25741868 More... NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678 		JBrowse link
G CFI complement factor I IAGP
EXP		 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP
EXP		 ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7		 ClinVar
CTD		 PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9915943 PMID:11317351 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G PLA2R1 phospholipase A2 receptor 1 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 2:159,923,933...160,062,615
Ensembl chr 2:159,932,006...160,062,615 		JBrowse link
G PLG plasminogen IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar PMID:28492532 PMID:28844315 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G THBD thrombomodulin severity
no_association		 IAGP
EXP		 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10460600 More... RGD:11038684, RGD:11038691, RGD:11038691 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:19380626 PMID:25741868 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Azotemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14728886 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G REN renin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6338847 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		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 IAGP associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169 		JBrowse link
G CD36 CD36 molecule IDA RGD PMID:16197457 RGD:6893534 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD46 CD46 molecule susceptibility IAGP DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)		 RGD PMID:14615110 PMID:16189652 PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CFH complement factor H IAGP
ISS		 DNA:mutations, polymorphisms:promoter, exon:multiple
OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926		 MouseDO
RGD		 PMID:14583443 RGD:11041164 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G F2 coagulation factor II, thrombin IEP associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230 		JBrowse link
G HP haptoglobin IEP RGD PMID:6218601 RGD:1626361 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity IEP associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP
IDA		 protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G MBL2 mannose binding lectin 2 treatment IMP RGD PMID:27378476 RGD:11530050 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G PLA2G7 phospholipase A2 group VII severity IAGP associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PLAT plasminogen activator, tissue type IEP associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 29102
    disease of anatomical entity 23393
      Urogenital Diseases 5651
        urinary system disease 2446
          kidney disease 2199
            uremia 86
              Azotemia 2
              hemolytic-uremic syndrome + 54
              uremic neuropathy 0
Path 2
Term Annotations click to browse term
  disease 29102
    disease of anatomical entity 23393
      Urogenital Diseases 5651
        urinary system disease 2446
          kidney disease 2199
            kidney failure 539
              uremia 86
                Azotemia 2
                hemolytic-uremic syndrome + 54
                uremic neuropathy 0
paths to the root