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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.

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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 chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		JBrowse link
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO RGD PMID:807434 RGD:1598784 NCBI chrNW_004955435:4,622,142...4,684,439
Ensembl chrNW_004955435:4,621,991...4,688,139 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO protein:increased expression:aorta RGD PMID:18288101 RGD:2315619 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226 		JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:omentum (rat) RGD PMID:18751736 RGD:2314180 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO RGD PMID:7933831 RGD:1300446 NCBI chrNW_004955419:26,801,924...26,852,116
Ensembl chrNW_004955419:26,801,925...26,851,627 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181 		JBrowse link
G Comt catechol-O-methyltransferase ISO protein:increased activity:erythrocyte RGD PMID:7437264 RGD:8662343 NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (rat) RGD PMID:11518857 RGD:8662310 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12675867 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:19339809 RGD:10044236 NCBI chrNW_004955413:2,182,459...2,192,279
Ensembl chrNW_004955413:2,182,459...2,192,279 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472 		JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D treatment ISO RGD PMID:16291838 RGD:10042968 NCBI chrNW_004955433:6,452,931...6,470,209
Ensembl chrNW_004955433:6,454,454...6,469,904 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17347482 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583 		JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955413:11,614,851...11,618,090
Ensembl chrNW_004955413:11,615,078...11,618,024 		JBrowse link
G Mstn myostatin ISO associated with Kidney Failure, Chronic RGD PMID:16871256 RGD:2303558 NCBI chrNW_004955403:8,914,505...8,921,190
Ensembl chrNW_004955403:8,914,482...8,923,465 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:kidney (rat) RGD PMID:21957179 RGD:5508758 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (rat)		 CTD
RGD		 PMID:2051637 PMID:22902873 RGD:7242742 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117 		JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:parathyroid gland RGD PMID:17514628 RGD:2292579 NCBI chrNW_004955461:14,337,914...14,622,779
Ensembl chrNW_004955461:14,337,914...14,556,931 		JBrowse link
G Retn resistin ISO protein:increased expression:adipose tissue RGD PMID:23058473 RGD:7207071 NCBI chrNW_004955563:1,607,814...1,609,273
Ensembl chrNW_004955563:1,607,814...1,609,273 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955437:10,598,145...10,885,858
Ensembl chrNW_004955437:10,598,145...10,800,560 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18768591 NCBI chrNW_004955439:2,399,992...2,406,587
Ensembl chrNW_004955439:2,290,035...2,406,587 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955408:6,100,123...6,122,460
Ensembl chrNW_004955408:6,099,003...6,122,459 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		JBrowse link
G Th tyrosine hydroxylase ISO protein:decreased activity:brain (rat) RGD PMID:2875142 RGD:5128603 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17347482 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092814 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		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 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... NCBI chrNW_004955513:2,761,386...2,786,447
Ensembl chrNW_004955513:2,764,186...2,786,187 		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 PMID:17182750 PMID:20301541 NCBI chrNW_004955419:24,469,213...24,521,728
Ensembl chrNW_004955419:24,443,172...24,520,467 		JBrowse link
G C1galt1c1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939 NCBI chrNW_004955572:1,254,289...1,258,561
Ensembl chrNW_004955572:1,254,289...1,258,561 		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:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... NCBI chrNW_004955437:449,171...460,898
Ensembl chrNW_004955437:448,672...460,519 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | 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, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | 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, 1		 ClinVar
OMIM		 PMID:1976733 PMID:9536098 PMID:12462331 PMID:14639503 PMID:17576681 More... NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chrNW_004955413:6,707,003...6,715,689
Ensembl chrNW_004955413:6,707,689...6,715,689 		JBrowse link
G Cd46 CD46 molecule susceptibility
severity		 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | 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: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | 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: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | 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: 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: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | 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: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | 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, SUSCEPTIBILITY TO, 2
DNA:mutations:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More... RGD:11038684 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More... NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar
OMIM		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | 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, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar
OMIM		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... NCBI chrNW_004955496:492,217...553,398
Ensembl chrNW_004955496:492,167...553,217 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955453:7,261,278...7,351,414 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chrNW_004955453:7,405,167...7,524,038
Ensembl chrNW_004955453:7,420,203...7,520,200 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 ClinVar PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chrNW_004955451:5,966,773...5,988,004
Ensembl chrNW_004955451:5,969,070...5,988,004 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chrNW_004955414:21,188,012...21,189,363 JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome		 ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612 		JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450 		JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955581:597,952...616,903
Ensembl chrNW_004955581:597,667...617,410 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chrNW_004955501:5,799,879...5,837,022
Ensembl chrNW_004955501:5,799,879...5,837,022 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955486:6,442,058...6,547,451
Ensembl chrNW_004955486:6,448,442...6,547,488 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chrNW_004955449:13,542,458...13,653,907
Ensembl chrNW_004955449:13,542,458...13,653,901 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955439:20,317,814...20,366,724
Ensembl chrNW_004955439:20,317,552...20,366,475 		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 chrNW_004955453:16,724,286...16,784,129
Ensembl chrNW_004955453:16,719,931...16,784,709 		JBrowse link
G Thbd thrombomodulin no_association
severity		 ISO DNA:SNPs:5' utr, 3' utr:multiple
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome		 RGD
OMIM
ClinVar		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684 RGD:11038691 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644 		JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:19380626 PMID:25741868 NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		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 chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		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 chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989 		JBrowse link
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1galt1c1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature ClinVar
OMIM		 PMID:25741868 PMID:36599939 PMID:37216524 NCBI chrNW_004955572:1,254,289...1,258,561
Ensembl chrNW_004955572:1,254,289...1,258,561 		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 chrNW_004955447:9,327...21,212 JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO RGD PMID:16197457 RGD:6893534 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313 		JBrowse link
G Cd46 CD46 molecule susceptibility ISO DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
DNA:frameshift mutation:cds:p.N233X3 (human)		 RGD PMID:14566051 PMID:14615110 PMID:16189652 RGD:11352767 RGD:11352770 RGD:11531138 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chrNW_004955451:5,966,773...5,988,004
Ensembl chrNW_004955451:5,969,070...5,988,004 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chrNW_004955470:7,779,828...7,849,157 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134 RGD:6909171 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604 		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 chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996 		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 chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chrNW_004955429:14,970,105...14,997,459
Ensembl chrNW_004955429:14,969,289...14,997,220 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Urogenital Diseases 4394
        urinary system disease 2228
          kidney disease 2019
            uremia 76
              Azotemia 1
              hemolytic-uremic syndrome + 45
              uremic neuropathy 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Urogenital Diseases 4394
        urinary system disease 2228
          kidney disease 2019
            kidney failure 468
              uremia 76
                Azotemia 1
                hemolytic-uremic syndrome + 45
                uremic neuropathy 0
paths to the root