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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:complement deficiency
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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 C6 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 chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275 		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 5:63,851,668...63,860,641
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:117,378,123...117,382,620
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 chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 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 chr 9:2,087,437...2,114,366
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 4:156,074,747...156,084,680
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, 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 chr13:106,575,586...106,606,325
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 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		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 chr20:3,970,643...3,976,510
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: 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:deletion:Cds:
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, RGD:7364995, RGD:7364995 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		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 chr13:51,395,583...51,410,571
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 chr13:51,422,592...51,491,476
Ensembl chr13:51,422,592...51,491,502 		JBrowse link
G Cfi complement 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 2:218,389,079...218,430,565
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:11134255 PMID:12028435 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 9:83,875,849...84,004,955
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 9:83,833,173...83,875,436
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:105,118,762...105,322,699
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 | 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 chr10:73,853,030...73,877,334
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 1:158,250,421...158,251,832
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 8:109,178,367...109,190,552
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 7:109,343,718...109,424,457
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 chr10:44,326,770...44,353,814
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 8:104,621,908...104,662,383
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 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 3:44,883,943...45,013,793
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 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		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 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		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 3:135,863,366...135,867,018
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 5:25,536,458...25,589,378
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 8:5,759,387...5,864,000
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 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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 ISO ClinVar Annotator: match by term: C1 ESTERASE INHIBITOR DEFICIENCY ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Serping1 serpin family 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 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Slc34a1 solute carrier family 34 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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		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 chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		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 chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		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 C3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
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
OMIM:613779		 CTD
OMIM
ClinVar
MouseDO		 PMID:1350678 PMID:1976733 PMID:4117597 PMID:14639503 PMID:15781264 More... NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		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 serpin family 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 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		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 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 chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Complement component 4b deficiency		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681 		JBrowse link
complement component 5 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5 complement C5 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 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		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 C6 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 chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275 		JBrowse link
G C8b complement C8 beta chain ISO ClinVar Annotator: match by term: Complement component 6 deficiency ClinVar PMID:7594510 PMID:8098723 PMID:8365729 PMID:14767900 PMID:19434484 More... NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565 		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 C7 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 chr 2:54,088,116...54,165,102
Ensembl chr 2:54,088,116...54,158,535 		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 C9 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 chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
Complement Component C1s Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1s complement C1s 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 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Complement component C1s deficiency ClinVar PMID:25741868 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		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 chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		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 chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		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 chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053 		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 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 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		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:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787 		JBrowse link
hereditary angioedema type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:3184114 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Serping1 serpin family 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 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Slc34a1 solute carrier family 34 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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		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 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 chr 1:228,016,439...228,024,736 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 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580 		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 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		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 C8 alpha chain 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 5:119,583,168...119,637,675
Ensembl chr 5:119,583,174...119,637,754 		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 C8 beta chain 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 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565 		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:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        complement deficiency 49
          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 + 3
          X-linked properdin deficiency 1
          atypical hemolytic-uremic syndrome + 31
          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 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            complement deficiency 49
              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 + 3
              X-linked properdin deficiency 1
              atypical hemolytic-uremic syndrome + 31
              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