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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:hemolytic-uremic syndrome
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Accession:DOID:12554 term browser browse the term
Definition:A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. (DO)
Synonyms:exact_synonym: Gasser syndrome;   Gasser's syndrome;   Gassers Syndrome;   haemolytic-uraemic syndrome;   typical hemolytic uremic syndrome
 narrow_synonym: HEREDITARY HEMOLYTIC UREMIC SYNDROME;   familial hemolytic uremic syndrome;   sporadic hemolytic uremic syndrome
 primary_id: MESH:D006463
 xref: GARD:6588;   ICD10CM:D59.3;   ICD9CM:283.11;   MIM:PS235400;   NCI:C75545
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd46 CD46 molecule susceptibility ISO 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 chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cfh complement factor H ISO
ISS		 DNA:mutations, polymorphisms:promoter, exon:multiple
ClinVar Annotator: match by term: Hereditary hemolytic uremic syndrome		 ClinVar
MouseDO
RGD		 PMID:30595568 PMID:14583443 RGD:11041164 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:74,348,931...74,374,509
Ensembl chr10:73,855,583...73,877,100 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		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 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476 		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 chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr 4:150,275,389...150,310,846
Ensembl chr 4:148,602,863...148,638,215 		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		 ClinVar
RGD		 PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... RGD:10449096 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		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 chr 5:68,647,166...68,656,137
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939 NCBI chr  X:122,243,736...122,248,217
Ensembl chr  X:117,375,525...117,382,787 		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 chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 ISO 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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, 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, 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: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
CTD Direct Evidence: marker/mechanism
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
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1879662 PMID:1976733 PMID:7961791 PMID:9536098 PMID:12462331 More... RGD:7364995, RGD:11040768 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G Cd46 CD46 molecule severity
susceptibility		 ISO DNA:mutations:cds:multiple (human)
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: 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: 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: 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 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
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:9536098 PMID:9551389 More... RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		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 chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
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, 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, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | 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 chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfh complement factor H susceptibility ISO
ISS
IMP		 DNA:missense mutation
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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, 3 | 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: THBD-related condition
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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: CD46-related condition | 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: AHUS, SUSCEPTIBILITY TO, 3 | 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, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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 Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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: 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, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | 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, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | 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, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | 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, 1 | 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: 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
MouseDO
CTD
RGD		 PMID:646435 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9551389 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO DNA:deletion
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:53,973,301...54,042,179
Ensembl chr13:51,422,592...51,491,502 		JBrowse link
G Cfi complement factor I susceptibility ISO 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | 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, 3 | 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, 3 | 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
CTD Direct Evidence: marker/mechanism
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
OMIM
CTD
RGD		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895 		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 chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876 		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 chr  X:109,907,251...110,111,214
Ensembl chr  X:105,118,820...105,322,692 		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, 1		 CTD
ClinVar		 PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr10:74,348,931...74,374,509
Ensembl chr10:73,855,583...73,877,100 		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 chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549 		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 chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		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 chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457 		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 chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 3:65,292,629...65,422,462
Ensembl chr 3:44,883,943...45,013,660 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Thbd thrombomodulin severity
susceptibility
no_association		 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: THBD-related condition
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: THBD-related condition
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
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple		 ClinVar
OMIM
CTD
RGD		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684, RGD:11038691, RGD:11038691 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		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 chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092 		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 chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		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 chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774 		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 chr  X:122,243,736...122,248,217
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      hemolytic-uremic syndrome 51
        Diarrhea prodrome + Hemolytic-Uremic Syndrome 1
        atypical hemolytic-uremic syndrome + 31
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Hemic and Lymphatic Diseases 4329
        hematopoietic system disease 3837
          blood coagulation disease 1445
            hemorrhagic disease 1399
              blood platelet disease 453
                thrombocytopenia 328
                  Thrombotic Microangiopathies 94
                    hemolytic-uremic syndrome 51
                      Diarrhea prodrome + Hemolytic-Uremic Syndrome 1
                      atypical hemolytic-uremic syndrome + 31
paths to the root