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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:8690922 PMID:9472666 PMID:9856498 PMID:12653841 PMID:17257682 PMID:22288589 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797 		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 PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:28492532 PMID:28748566 PMID:28866379 PMID:30046676 PMID:32183147, PMID:12640381 RGD:10449096 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4		 ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152 		JBrowse link
G C3 complement C3 susceptibility ISO 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 OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)		 ClinVar
CTD
OMIM		 PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:20301541 PMID:20595690 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26613027 PMID:28492532 PMID:30131807, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869 		JBrowse link
G Cd46 CD46 molecule susceptibility
severity		 ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)		 ClinVar
OMIM
CTD		 PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:26054645 PMID:26307634 PMID:26559391 PMID:28056875 PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995 		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: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar Annotator: match by OMIM:612924		 ClinVar
OMIM
CTD		 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:15661753 PMID:16518403 PMID:16936732 PMID:17182750 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779 PMID:28492532, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066 		JBrowse link
G Cfh complement factor H susceptibility ISO
IMP		 DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::		 ClinVar
OMIM
CTD		 PMID:646435 PMID:8072530 PMID:9551389 PMID:9811382 PMID:9848786 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16619239 PMID:17018561 PMID:17947292 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:20513133 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22456601 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:28492532 PMID:29888403, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622 		JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion		 ClinVar
CTD
OMIM		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868, PMID:23243267 RGD:11041162 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650 		JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923		 ClinVar
CTD
OMIM		 PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20513133 PMID:20595690 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23685748 PMID:23787556 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25741868 PMID:25758434 PMID:27268256 PMID:28282489 PMID:28492532, PMID:15173250 RGD:6906889 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:10094548 PMID:19344236 PMID:23720012 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome		 ClinVar
CTD		 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:29590070 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:28492532 PMID:29396438 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776 		JBrowse link
G RGD1564614 similar to complement factor H-related protein susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to		 ClinVar
CTD
OMIM		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561 		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 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229 		JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity		 ISO ClinVar Annotator: match by OMIM:612926
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		 PMID:7811989 PMID:10460600 PMID:11986219 PMID:12139752 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325 		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: Quincke edema ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Quincke edema ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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: Complement component 2 deficiency
ClinVar Annotator: match by term: C2 deficiency
ClinVar Annotator: match by term: C2 deficiency, type II		 OMIM
ClinVar		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:8621452 PMID:9616367 PMID:9670930 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 PMID:31440263 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Complement component 2 deficiency
ClinVar Annotator: match by term: C2 deficiency		 ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066 		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 ClinVar Annotator: match by term: Complement component 3 deficiency, autosomal recessive
ClinVar Annotator: match by term: C3 deficiency		 OMIM
ClinVar		 PMID:1350678 PMID:1976733 PMID:4117597 PMID:14639503 PMID:15781264 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:20595690 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26613027 PMID:28492532 PMID:30131807 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		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 OMIM
ClinVar		 PMID:7883978 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078 		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 ClinVar Annotator: match by term: C4a deficiency OMIM
ClinVar		 PMID:2295875 PMID:8473511 PMID:25741868 NCBI chr20:2,651,599...2,678,183
Ensembl chr20:2,651,599...2,678,141 		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 ClinVar Annotator: match by term: Complement component 4b deficiency OMIM
ClinVar		 PMID:25741868 NCBI chr20:4,302,344...4,316,752
Ensembl chr20:4,302,344...4,316,715 		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 ClinVar Annotator: match by term: Complement component 5 deficiency
ClinVar Annotator: match by term: Leiner disease
ClinVar Annotator: match by OMIM:609536		 OMIM
ClinVar		 PMID:7730648 PMID:15778377 PMID:19414197 PMID:22668955 PMID:23371790 PMID:24033266 PMID:25534848 PMID:25741868 PMID:27026170 PMID:28492532 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080 		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 ClinVar Annotator: match by term: Complement component 6 deficiency
ClinVar Annotator: match by OMIM:612446
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:8690922 PMID:9472666 PMID:9856498 PMID:12653841 PMID:17257682 PMID:22288589 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797 		JBrowse link
G C8b complement C8 beta chain ISO ClinVar Annotator: match by term: C6 DEFICIENCY
ClinVar Annotator: match by term: Complement component 6 deficiency		 ClinVar PMID:7594510 PMID:8098723 PMID:14767900 PMID:19434484 PMID:24033266 PMID:25741868 NCBI chr 5:124,298,269...124,338,055
Ensembl chr 5:124,300,477...124,338,053 		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 ClinVar Annotator: match by term: Complement component 7 deficiency
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610102		 OMIM
ClinVar		 PMID:8871666 PMID:8892662 PMID:9218625 PMID:12869030 PMID:15554930 PMID:15831990 PMID:16771861 PMID:25741868 PMID:28492532 NCBI chr 2:54,707,621...54,781,624
Ensembl chr 2:54,709,138...54,777,729 		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 ISO ClinVar Annotator: match by term: Complement component 9 deficiency
ClinVar Annotator: match by OMIM:613825		 OMIM
ClinVar		 PMID:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 PMID:9703418 PMID:11359403 PMID:12596049 PMID:25741868 PMID:28492532 PMID:28617419 PMID:31440263 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826 		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 ClinVar Annotator: match by synonym: C1s deficiency
ClinVar Annotator: match by term: Complement component c1s deficiency		 ClinVar
OMIM		 PMID:9856483 PMID:11390518 PMID:25741868 PMID:28492532 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Complement component c1s deficiency ClinVar PMID:25741868 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908 		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:20108004 PMID:20513133 PMID:24033266 PMID:24652797 PMID:25741868 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Complement factor B deficiency
ClinVar Annotator: match by OMIM:615561		 OMIM
ClinVar		 PMID:20108004 PMID:20513133 PMID:23847193 PMID:24033266 PMID:24152280 PMID:24652797 PMID:25741868 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066 		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: Complement factor d deficiency
ClinVar Annotator: match by OMIM:613912		 OMIM
ClinVar		 PMID:11457876 PMID:25741868 NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943 		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 ClinVar Annotator: match by term: C3 GLOMERULOPATHY 2 OMIM
ClinVar		 PMID:22710145 PMID:25741868 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781 		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 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 PMID:30943683 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776 		JBrowse link
G Serping1 serpin family G member 1 ISO 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, type II
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angioedema, hereditary, autosomal recessive		 ClinVar
OMIM
CTD		 PMID:1339401 PMID:1363816 PMID:1644161 PMID:1684567 PMID:1885769 PMID:2296585 PMID:2365061 PMID:2563376 PMID:2723063 PMID:2890659 PMID:3178731 PMID:3587308 PMID:8396558 PMID:8755917 PMID:9536098 PMID:15806011 PMID:16813612 PMID:17137866 PMID:17576681 PMID:18387221 PMID:18586324 PMID:18758157 PMID:20804470 PMID:20864152 PMID:21832835 PMID:22994404 PMID:24033266 PMID:25741868 PMID:28194776 PMID:28359783 PMID:28492532 PMID:29753808 PMID:30398465 PMID:30847342 PMID:31959500 PMID:31982983 PMID:33034800 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 PMID:30943683 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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 ClinVar Annotator: match by term: C8AG DEFICIENCY
ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM
ClinVar Annotator: match by OMIM:613790		 OMIM
ClinVar		 PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 NCBI chr 5:124,348,536...124,403,117
Ensembl chr 5:124,348,461...124,403,195 		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: Type II complement component 8 deficiency
ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8B DEFICIENCY
ClinVar Annotator: match by OMIM:613789		 OMIM
ClinVar		 PMID:7594510 PMID:8098723 PMID:14767900 PMID:19434484 PMID:24033266 PMID:25741868 NCBI chr 5:124,298,269...124,338,055
Ensembl chr 5:124,300,477...124,338,053 		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 ClinVar Annotator: match by OMIM:312060
ClinVar Annotator: match by term: Properdin deficiency, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PROPERDIN DEFICIENCY, TYPE III
ClinVar Annotator: match by null		 ClinVar
OMIM
CTD		 PMID:3380115 PMID:7151327 PMID:8530058 PMID:8871668 PMID:10909851 NCBI chr  X:1,311,121...1,316,683
Ensembl chr  X:1,311,121...1,316,682 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        complement deficiency 32
          C1 inhibitor deficiency + 5
          Complement Component 4, Partial Deficiency Of 1
          Complement Component C1r/C1s Deficiency + 2
          Complement Factor B Deficiency 2
          Complement Factor D Deficiency 1
          X-linked properdin deficiency 1
          atypical hemolytic-uremic syndrome 17
          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 17129
    disease of anatomical entity 16476
      Immune & Inflammatory Diseases 3881
        immune system disease 3249
          primary immunodeficiency disease 2694
            complement deficiency 32
              C1 inhibitor deficiency + 5
              Complement Component 4, Partial Deficiency Of 1
              Complement Component C1r/C1s Deficiency + 2
              Complement Factor B Deficiency 2
              Complement Factor D Deficiency 1
              X-linked properdin deficiency 1
              atypical hemolytic-uremic syndrome 17
              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