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
Accession: DOID:626
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 .
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 More...
NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 PMID:28492532 PMID:28748566 PMID:28866379 PMID:30046676 PMID:32183147 PMID:12640381 More...
RGD:10449096
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
G
Baat
bile acid CoA:amino acid N-acyltransferase
ISO
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar
NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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: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 More...
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
G
C3
complement C3
susceptibility
ISO
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar CTD OMIM RGD
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:19590060 PMID:20301541 PMID:20595690 PMID:21125405 PMID:23307876 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25188723 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26283675 PMID:26613027 PMID:28492532 PMID:28596415 PMID:29566171 PMID:29888403 PMID:30046676 PMID:30131807 PMID:30773290 PMID:32950058 PMID:33213850 PMID:17517971 PMID:20513133 More...
RGD:7364995 , RGD:11040768
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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
G
Cd46
CD46 molecule
severity susceptibility
ISO
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: 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:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20059470 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:23780777 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:25951460 PMID:26054645 PMID:26307634 PMID:26559391 PMID:27399110 PMID:28056875 PMID:28492532 PMID:28509134 PMID:28752844 PMID:29500241 PMID:29566171 PMID:30305631 PMID:30609409 PMID:33224962 PMID:34169201 PMID:20595690 PMID:16353080 PMID:20513133 PMID:17914026 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
G
Cfb
complement factor B
susceptibility
ISO
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense mutations: :multiple
ClinVar OMIM CTD RGD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 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 More...
RGD:7242707 , RGD:11040768
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Cfh
complement factor H
susceptibility
ISO 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: 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::
ClinVar OMIM CTD RGD
PMID:646435 PMID:8072530 PMID:9536098 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:16338962 PMID:16470555 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20513133 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:26826462 PMID:27718086 PMID:28492532 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:31447099 PMID:33519811 PMID:34189567 PMID:10577907 PMID:9811382 PMID:23243267 PMID:20513133 PMID:17517971 PMID:17517971 PMID:17517971 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
G
Cfhr1
complement factor H-related 1
susceptibility
ISO
DNA:deletion ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 PMID:23243267 More...
RGD:11041162
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
G
Cfi
complement factor I
susceptibility
ISO
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9536098 PMID:15173250 PMID:16621965 PMID:17576681 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:25352734 PMID:25741868 PMID:25741909 PMID:25758434 PMID:25788521 PMID:26691988 PMID:26767664 PMID:27268256 PMID:28282489 PMID:28492532 PMID:29392637 PMID:29410599 PMID:29500241 PMID:29888403 PMID:31049720 PMID:31249236 PMID:32510551 PMID:15173250 More...
RGD:6906889
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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 PMID:9848783 PMID:19344236 PMID:23720012 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 More...
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:28492532 PMID:29590070 More...
NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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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 More...
NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
G
Plg
plasminogen
ISO
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
G
Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar
PMID:28492532
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
G
Thbd
thrombomodulin
severity susceptibility 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, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism DNA:SNPs:5' utr, 3' utr:multiple DNA:missense mutations:CDS:multiple
ClinVar OMIM CTD RGD
PMID:7811989 PMID:9157575 PMID:9236408 PMID:10460600 PMID:11245641 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532 PMID:34355501 PMID:20595690 PMID:19625716 PMID:19625716 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
G
C2
complement C2
ISO
ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: C2 deficiency, type I | ClinVar Annotator: match by term: C2 deficiency, type II | ClinVar Annotator: match by term: Complement component 2 deficiency
OMIM ClinVar
PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:8621452 PMID:9536098 PMID:9616367 PMID:9670930 PMID:16518403 PMID:16936732 PMID:17576681 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 PMID:31440263 PMID:31980526 PMID:33726816 PMID:34426522 More...
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 More...
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
C3
complement C3
ISO
ClinVar Annotator: match by term: C3 deficiency | ClinVar Annotator: match by term: Complement component 3 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:26283675 PMID:26613027 PMID:28492532 PMID:29888403 PMID:30131807 PMID:33213850 More...
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
G
C4a
complement C4A
ISO
ClinVar Annotator: match by term: Complement component 4a deficiency
OMIM ClinVar
PMID:2295875 PMID:8473511 PMID:25741868
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
G
C4b
complement C4B (Chido blood group)
ISO
ClinVar Annotator: match by term: Complement component 4b deficiency
OMIM ClinVar
PMID:25741868
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
G
C5
complement C5
ISO
ClinVar Annotator: match by term: Complement component 5 deficiency
OMIM ClinVar
PMID:7730648 PMID:15778377 PMID:19414197 PMID:22668955 PMID:23371790 PMID:24033266 PMID:25534848 PMID:25741868 PMID:27026170 PMID:28492532 More...
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
G
C6
complement C6
ISO
ClinVar Annotator: match by term: Complement component 6 deficiency
OMIM ClinVar
PMID:7535801 PMID:8690922 PMID:8871666 PMID:9472666 PMID:9536098 PMID:9856498 PMID:10632667 PMID:12653841 PMID:16199547 PMID:17257682 PMID:17576681 PMID:22288589 PMID:22668955 PMID:23537992 PMID:24033266 PMID:24378253 PMID:25741868 PMID:28368462 PMID:28492532 PMID:31440263 PMID:32860008 More...
NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27183977 PMID:28368462 PMID:28492532 PMID:30609409 PMID:31980526 More...
NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
G
C7
complement C7
ISO
ClinVar Annotator: match by term: Complement component 7 deficiency
OMIM ClinVar
PMID:8871666 PMID:8892662 PMID:9218625 PMID:9536098 PMID:9856499 PMID:12869030 PMID:15554930 PMID:15831990 PMID:16771861 PMID:17407100 PMID:17576681 PMID:19931914 PMID:25741868 PMID:28492532 More...
NCBI chr 2:54,088,116...54,165,102
Ensembl chr 2:54,088,116...54,158,535
G
C9
complement C9
ISO
ClinVar Annotator: match by term: Complement component 9 deficiency
OMIM ClinVar
PMID:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 PMID:9703418 PMID:11359403 PMID:12596049 PMID:22190594 PMID:25741868 PMID:28492532 PMID:28617419 PMID:31440263 More...
NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
G
C1s
complement C1s
ISO
ClinVar Annotator: match by term: Complement component C1s deficiency
OMIM ClinVar
PMID:9856483 PMID:11390518 PMID:25741868 PMID:28492532
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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
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 PMID:28492532 More...
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
G
Cfb
complement factor B
ISO
ClinVar Annotator: match by term: Complement factor B deficiency | ClinVar Annotator: match by term: Complement factor b deficiency
OMIM ClinVar
PMID:20108004 PMID:20513133 PMID:23847193 PMID:24033266 PMID:24152280 PMID:24652797 PMID:25741868 PMID:28492532 More...
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Cfd
complement factor D
ISO
ClinVar Annotator: match by term: Complement factor d deficiency
OMIM ClinVar
PMID:11457876 PMID:25741868
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
G
Cfi
complement factor I
ISO
ClinVar Annotator: match by term: C3 GLOMERULOPATHY 2
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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
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:25741868 PMID:25744496 PMID:25790805 PMID:28492532 More...
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
G
Plg
plasminogen
ISO
ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar
PMID:28492532 PMID:28795768 PMID:29548426 PMID:29952006 PMID:29987869 PMID:33799813 More...
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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 | ClinVar Annotator: match by term: Hereditary angioneurotic edema
CTD ClinVar OMIM
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:15806011 PMID:16813612 PMID:17137866 PMID:18387221 PMID:18758157 PMID:20864152 PMID:22994404 PMID:24033266 PMID:25741868 PMID:28194776 PMID:28492532 PMID:29753808 PMID:30508583 PMID:30847342 PMID:31959500 PMID:31982983 PMID:32065705 PMID:33034800 More...
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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:25741868 PMID:25744496 PMID:25790805 PMID:28492532 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
G
C8a
complement C8 alpha chain
ISO
ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM | ClinVar Annotator: match by term: Type I complement component 8 deficiency
OMIM ClinVar
PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:119,583,168...119,637,675
Ensembl chr 5:119,583,174...119,637,754
G
C8b
complement C8 beta chain
ISO
ClinVar Annotator: match by term: Type II complement component 8 deficiency
OMIM ClinVar
PMID:7594510 PMID:8098723 PMID:8365729 PMID:14767900 PMID:19434484 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27183977 PMID:28368462 PMID:28492532 PMID:30609409 PMID:31440263 PMID:31980526 More...
NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
G
Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism 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 PMID:25741868 PMID:28166811 PMID:28492532 More...
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all