Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:complement deficiency
go back to main search page
Accession:DOID:626 term browser browse the term
Definition:A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. (DO)
Synonyms:exact_synonym: complement deficiency disease;   hereditary complement deficiency disease;   hereditary complement deficiency diseases;   inherited complement deficiency disease;   inherited complement deficiency diseases
 narrow_synonym: immunodeficiency due to a late component of complement deficiency
 primary_id: MESH:D000081208
 xref: NCI:C4691
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
complement deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6 complement component 6 ISO ClinVar Annotator: match by term: Immunodeficiency due to a late component of complement deficiency ClinVar PMID:8512929 PMID:8690922 PMID:9472666 PMID:9856498 PMID:10632667 More... NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449 		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 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Baat bile acid-Coenzyme A: amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557 		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:37,719,660...37,724,020
Ensembl chr  X:37,719,662...37,723,964 		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 chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241 		JBrowse link
G C3 complement component 3 IGI
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: 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
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)		 ClinVar
OMIM
CTD
RGD		 PMID:1976733 PMID:9536098 PMID:12462331 PMID:14639503 PMID:17576681 More... RGD:7364995, RGD:11040768 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G C3ar1 complement component 3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein 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, 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
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 chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cfb complement factor B 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, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
DNA:nonsense mutations: :multiple
CTD Direct Evidence: marker/mechanism
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		 OMIM
ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... RGD:7242707, RGD:11040768 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cfh complement component factor h susceptibility ISO
IAGP		 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: 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, 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:SNPs,Haplotype::		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO DNA:deletion
CTD Direct Evidence: marker/mechanism
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		 OMIM
CTD
ClinVar
RGD		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Cfhr2 complement factor H-related 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1		 CTD
OMIM
ClinVar		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:19745068 PMID:20843825 More... NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456 		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 chr 1:139,625,657...139,708,977
Ensembl chr 1:139,625,361...139,708,981 		JBrowse link
G Cfi complement component factor i ISO 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
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		 OMIM
ClinVar
CTD
RGD		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780 		JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Col4a5 collagen, type IV, alpha 5 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:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7		 CTD
ClinVar		 PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868
G Lamb2 laminin, beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria 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 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		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 chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 2:60,247,887...60,383,669
Ensembl chr 2:60,247,887...60,383,652 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272 		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 chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293 		JBrowse link
G Thbd thrombomodulin severity
no_association		 ISO 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
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:10102456 More... RGD:11038684, RGD:11038691, RGD:11038691 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742 		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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
C1 inhibitor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII (Hageman factor) ISO ClinVar Annotator: match by term: C1 ESTERASE INHIBITOR DEFICIENCY ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		JBrowse link
G Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1 ISO ClinVar Annotator: match by term: Deficiency of C1 esterase inhibitor ClinVar PMID:8755917 PMID:25258140 PMID:25741868 PMID:28492532 PMID:29753808 More... NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: C1 ESTERASE INHIBITOR DEFICIENCY ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		JBrowse link
complement component 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: C2 deficiency, type II | ClinVar Annotator: match by term: Complement component 2 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1542325 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 More... NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: Complement component 2 deficiency ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
complement component 3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 IAGP
ISO		 OMIM:613779
ClinVar Annotator: match by term: C3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency, autosomal recessive
CTD Direct Evidence: marker/mechanism		 MouseDO
OMIM
ClinVar
CTD		 PMID:1350678 PMID:1976733 PMID:4117597 PMID:14639503 PMID:15781264 More... NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
Complement Component 4, Partial Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1 ISO ClinVar Annotator: match by term: Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6480834 PMID:7883978 PMID:28492532 NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788 		JBrowse link
complement component 4A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4a complement C4A (Rodgers blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Complement component 4a deficiency		 OMIM
CTD
ClinVar		 PMID:2295875 PMID:8473511 PMID:25741868 NCBI chr17:35,028,069...35,042,436
Ensembl chr17:35,028,069...35,042,440 		JBrowse link
complement component 4B deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4b complement C4B (Chido blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Complement component 4b deficiency		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr17:34,947,249...34,962,876
Ensembl chr17:34,947,354...34,962,856 		JBrowse link
complement component 5 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hc hemolytic complement ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C5-related condition | ClinVar Annotator: match by term: Complement component 5 deficiency		 OMIM
CTD
ClinVar		 PMID:7730648 PMID:9536098 PMID:15778377 PMID:16199547 PMID:17576681 More... NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450 		JBrowse link
complement component 6 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6 complement component 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Complement component 6 deficiency		 OMIM
CTD
ClinVar		 PMID:7535801 PMID:8512929 PMID:8690922 PMID:8871666 PMID:9472666 More... NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449 		JBrowse link
G C8b complement component 8, beta polypeptide ISO ClinVar Annotator: match by term: Complement component 6 deficiency ClinVar PMID:7594510 PMID:8098723 PMID:8365729 PMID:14767900 PMID:19434484 More... NCBI chr 4:104,623,514...104,661,745
Ensembl chr 4:104,623,514...104,661,745 		JBrowse link
complement component 7 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C7 complement component 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C7-related condition | ClinVar Annotator: match by term: Complement component 7 deficiency		 OMIM
CTD
ClinVar		 PMID:8871666 PMID:8892662 PMID:9218625 PMID:9536098 PMID:9856499 More... NCBI chr15:5,017,232...5,093,230
Ensembl chr15:5,018,244...5,093,222 		JBrowse link
complement component 9 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement component 9 susceptibility ISO ClinVar Annotator: match by term: C9-related condition | ClinVar Annotator: match by term: Complement component 9 deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 More... NCBI chr15:6,474,827...6,528,306
Ensembl chr15:6,474,808...6,528,232 		JBrowse link
Complement Component C1s Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1s1 complement component 1, s subcomponent 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Complement component C1s deficiency		 OMIM
CTD
ClinVar		 PMID:9973493 PMID:11390518 PMID:19155518 PMID:25741868 PMID:28492532 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Complement component C1s deficiency ClinVar PMID:25741868 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
Complement Factor B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO ClinVar Annotator: match by term: Complement factor b deficiency ClinVar PMID:16518403 PMID:16936732 PMID:20108004 PMID:20513133 PMID:21541267 More... NCBI chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Complement factor B deficiency | ClinVar Annotator: match by term: Complement factor b deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16518403 PMID:16936732 PMID:20108004 PMID:20513133 PMID:21541267 More... NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
Complement Factor D Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfd complement factor D ISO ClinVar Annotator: match by term: CFD-related condition | ClinVar Annotator: match by term: Complement factor d deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11457876 PMID:25741868 PMID:28492532 NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489 		JBrowse link
complement factor I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfi complement component factor i ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Complement factor I deficiency		 CTD
OMIM
ClinVar		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		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:37,719,660...37,724,020
Ensembl chr  X:37,719,662...37,723,964 		JBrowse link
hereditary angioedema type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1s1 complement component 1, s subcomponent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3184114 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318 		JBrowse link
G F12 coagulation factor XII (Hageman factor) ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		JBrowse link
G Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | ClinVar Annotator: match by term: Hereditary angioedema type 1 | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency		 CTD
ClinVar
OMIM		 PMID:1339401 PMID:1363816 PMID:1451784 PMID:1644161 PMID:1684567 More... NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		JBrowse link
Immunodeficiency due to Ficolin 3 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcna ficolin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency due to ficolin 3 deficiency | ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3		 OMIM
CTD
ClinVar		 PMID:19535802 PMID:20971976 PMID:22226667 PMID:25662573 PMID:25741868 More... NCBI chr 2:25,514,677...25,525,448
Ensembl chr 2:25,514,678...25,518,042 		JBrowse link
Mannose-Binding Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbl2 mannose-binding lectin (protein C) 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mannose-binding lectin deficiency		 OMIM
CTD
ClinVar		 PMID:1303250 PMID:1304173 PMID:1458688 PMID:1675710 PMID:7707811 More... NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
MASP2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency		 OMIM
CTD
ClinVar		 PMID:12904520 PMID:15086395 PMID:16029433 PMID:17137870 PMID:17252003 More... NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:148,696,839...148,711,672
Ensembl chr 4:148,696,839...148,711,476 		JBrowse link
type I complement component 8 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8a complement component 8, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Type I complement component 8 deficiency		 OMIM
CTD
ClinVar		 PMID:975502 PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 More... NCBI chr 4:104,672,876...104,733,684
Ensembl chr 4:104,672,876...104,733,595 		JBrowse link
type II complement component 8 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8b complement component 8, beta polypeptide ISO ClinVar Annotator: match by term: C8B-related condition | ClinVar Annotator: match by term: Type II complement component 8 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7594510 PMID:8098723 PMID:8365729 PMID:9536098 PMID:14767900 More... NCBI chr 4:104,623,514...104,661,745
Ensembl chr 4:104,623,514...104,661,745 		JBrowse link
X-linked properdin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFP-related condition | ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type III		 CTD
ClinVar
OMIM		 PMID:3380115 PMID:7151327 PMID:8530058 PMID:8871668 PMID:10909851 More... NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      primary immunodeficiency disease 3856
        complement deficiency 51
          C1 inhibitor deficiency + 4
          Complement Component 4, Partial Deficiency Of 1
          Complement Component C1r/C1s Deficiency + 2
          Complement Factor B Deficiency 2
          Complement Factor D Deficiency 1
          Lectin Complement Activation Pathway Defects + 4
          X-linked properdin deficiency 1
          atypical hemolytic-uremic syndrome + 32
          complement component 2 deficiency 2
          complement component 3 deficiency 1
          complement component 4A deficiency 1
          complement component 4B deficiency 1
          complement component 5 deficiency 1
          complement component 6 deficiency 2
          complement component 7 deficiency 1
          complement component 9 deficiency 1
          complement factor I deficiency 1
          type I complement component 8 deficiency 1
          type II complement component 8 deficiency 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Immune & Inflammatory Diseases 5172
        immune system disease 4464
          primary immunodeficiency disease 3856
            complement deficiency 51
              C1 inhibitor deficiency + 4
              Complement Component 4, Partial Deficiency Of 1
              Complement Component C1r/C1s Deficiency + 2
              Complement Factor B Deficiency 2
              Complement Factor D Deficiency 1
              Lectin Complement Activation Pathway Defects + 4
              X-linked properdin deficiency 1
              atypical hemolytic-uremic syndrome + 32
              complement component 2 deficiency 2
              complement component 3 deficiency 1
              complement component 4A deficiency 1
              complement component 4B deficiency 1
              complement component 5 deficiency 1
              complement component 6 deficiency 2
              complement component 7 deficiency 1
              complement component 9 deficiency 1
              complement factor I deficiency 1
              type I complement component 8 deficiency 1
              type II complement component 8 deficiency 1
paths to the root