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: cellulitis
Accession: DOID:3488
browse the term
Definition: A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. (DO)
Synonyms: exact_synonym: phlegmon
primary_id: MESH:D002481
xref: ICD10CM:L03.90 ; NCI:C26715 ; NCI:C34454
For additional species annotation, visit the
Alliance of Genome Resources .
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Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Cybc1
cytochrome b-245 chaperone 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5
OMIM ClinVar
PMID:28492532 PMID:28600779 PMID:30312704 PMID:30361506
NCBI chr10:106,498,730...106,505,549
Ensembl chr10:106,498,725...106,505,596
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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Aprt
adenine phosphoribosyl transferase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
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Cbfa2t3
CBFA2/RUNX1 partner transcriptional co-repressor 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
OMIM ClinVar
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 PMID:4384563 PMID:9445163 PMID:9536098 PMID:10440830 PMID:10759707 PMID:10910929 PMID:12073015 PMID:16199547 PMID:17576681 PMID:18422995 PMID:19388116 PMID:19949658 PMID:20167518 PMID:21190454 PMID:22336310 PMID:22876374 PMID:22924696 PMID:23910690 PMID:25741868 PMID:26185101 PMID:26936803 PMID:27537055 PMID:28341171 PMID:28492532 PMID:29454792 PMID:30709874 PMID:32040803 PMID:33717137 More...
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:23910690 PMID:28492532
NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l
PABPN1 like
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Snai3
snail family transcriptional repressor 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Trappc2l
trafficking protein particle complex subunit 2L
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY | ClinVar Annotator: match by term: p47-PHOX DEFICIENCY
OMIM ClinVar
PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:16972229 PMID:24446915 PMID:25741868 More...
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Acbd6
acyl-CoA binding domain containing 6
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Cacna1e
calcium voltage-gated channel subunit alpha1 E
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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Cep350
centrosomal protein 350
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,023,327...68,164,478
Ensembl chr13:68,026,891...68,165,214
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Dhx9
DExH-box helicase 9
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069
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Fam163a
family with sequence similarity 163, member A
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,262,867...68,341,323
Ensembl chr13:68,262,872...68,341,049
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Glul
glutamate-ammonia ligase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Ier5
immediate early response 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,270,134...67,272,226
Ensembl chr13:67,270,135...67,272,227
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Lamc1
laminin subunit gamma 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
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Lamc2
laminin subunit gamma 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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Lhx4
LIM homeobox 4
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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Mr1
major histocompatibility complex, class I-related
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,298,362...67,317,985
Ensembl chr13:67,299,585...67,317,970
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Ncf2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
OMIM ClinVar
PMID:7795241 PMID:8781442 PMID:9536098 PMID:10498624 PMID:10598813 PMID:11499676 PMID:16199547 PMID:16937026 PMID:17576681 PMID:18625437 PMID:19624736 PMID:20167518 PMID:21900546 PMID:23821607 PMID:24033266 PMID:24931457 PMID:25640679 PMID:25741868 PMID:26272171 PMID:28492532 PMID:32281309 More...
NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277
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Nmnat2
nicotinamide nucleotide adenylyltransferase 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Npl
N-acetylneuraminate pyruvate lyase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372
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Qsox1
quiescin sulfhydryl oxidase 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
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RGD1304622
similar to 6820428L09 protein
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,388,916...67,427,392
Ensembl chr13:67,389,044...67,421,272
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Rgs16
regulator of G-protein signaling 16
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,887,788...65,891,232
Ensembl chr13:65,887,530...65,892,857
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Rgs8
regulator of G-protein signaling 8
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,804,703...65,848,953
Ensembl chr13:65,804,797...65,846,807
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Rgsl1
regulator of G-protein signaling like 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,915,052...65,969,846
Ensembl chr13:65,915,097...65,968,954
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Rnasel
ribonuclease L
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Shcbp1l
SHC binding and spindle associated 1 like
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,568,863...65,599,155
Ensembl chr13:65,568,863...65,599,154
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Smg7
SMG7 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:64,986,145...65,050,698
Ensembl chr13:64,987,434...65,050,582
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Stx6
syntaxin 6
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
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Tdrd5
tudor domain containing 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,394,180...68,447,745
Ensembl chr13:68,394,061...68,441,319
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Teddm1b
transmembrane epididymal protein 1B
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,968,943...66,007,077
Ensembl chr13:66,000,281...66,001,189
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Tor1aip1
torsin 1A interacting protein 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862
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Tor1aip2
torsin 1A interacting protein 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,225,226...68,256,536
Ensembl chr13:68,230,009...68,256,536 Ensembl chr13:68,230,009...68,256,536
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Xpr1
xenotropic and polytropic retrovirus receptor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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Zfp648
zinc finger protein 648
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:66,337,098...66,344,963
Ensembl chr13:66,342,427...66,344,031
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Csf2rb
colony stimulating factor 2 receptor subunit beta
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:24446915 PMID:25741868
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Ncf4
neutrophil cytosolic factor 4
ISO
ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16880254 PMID:17576681 PMID:19692703 PMID:20167518 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29454792 PMID:29969437 PMID:31027832 PMID:34547651 More...
NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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Tex33
testis expressed 33
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072
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Tst
thiosulfate sulfurtransferase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216
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Cyba
cytochrome b-245 alpha chain
ISO
autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human) DNA:mutations:multiple (human) DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic granulomatous disease
CTD ClinVar RGD
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:9445163 PMID:10440830 PMID:10759707 PMID:10910929 PMID:16199547 PMID:19388116 PMID:19949658 PMID:20167518 PMID:21190454 PMID:22336310 PMID:22876374 PMID:22924696 PMID:25741868 PMID:26936803 PMID:27537055 PMID:28341171 PMID:28492532 PMID:29454792 PMID:30709874 PMID:32040803 PMID:33717137 PMID:1415254 PMID:2243141 PMID:10759707 More...
RGD:1600791 , RGD:734861 , RGD:11040541
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cybb
cytochrome b-245 beta chain
ISO
DNA:point mutations:promoter DNA:mutations:promoter: CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Chronic granulomatous disease
CTD ClinVar RGD
PMID:8634410 PMID:11045425 PMID:11122248 PMID:11498749 PMID:17293536 PMID:20729109 PMID:21190454 PMID:21278736 PMID:22924737 PMID:25741868 PMID:28492532 PMID:29560547 PMID:8083361 PMID:11122248 More...
RGD:1599664 , RGD:11040566
NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
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Cybc1
cytochrome b-245 chaperone 1
ISS
MouseDO
NCBI chr10:106,498,730...106,505,549
Ensembl chr10:106,498,725...106,505,596
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G6pd
glucose-6-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4125296
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Ifng
interferon gamma
ISO ISS
MouseDO RGD
PMID:22883043
RGD:6893353
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ncf1
neutrophil cytosolic factor 1
ISO ISS
autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960
MouseDO RGD
PMID:7678602 PMID:2393022
RGD:1600562 , RGD:1624401
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Ncf2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar RGD
PMID:2393022
RGD:1624401
NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277
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Ncf4
neutrophil cytosolic factor 4
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar
PMID:19692703 PMID:29969437 PMID:34034819
NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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Tlr5
toll-like receptor 5
ISO
protein:decreased expression:blood, neutrophil (human)
RGD
PMID:18155283
RGD:5130865
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:blood, neutrophil (human)
RGD
PMID:18155283
RGD:5130865
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
ClinVar
PMID:28492532
NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
OMIM ClinVar
PMID:290284 PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:14670978 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24472623 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28216420 PMID:28492532 PMID:28769923 PMID:28783691 PMID:29107076 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31313695 PMID:31503426 PMID:31980526 PMID:32447396 PMID:33193364 PMID:33365035 PMID:33628209 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
OMIM ClinVar
PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16960852 PMID:17572155 PMID:18025461 PMID:18463379 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29658452 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:31058115 PMID:31334206 PMID:31388879 PMID:31838659 PMID:32445296 PMID:32581362 PMID:32655540 PMID:32888943 PMID:33628209 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18292527
RGD:4892087
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd28
Cd28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
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Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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RT1-Db1
RT1 class II, locus Db1
severity
ISO ISS
DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human)
MouseDO RGD
PMID:17325942
RGD:5147631
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Tnf
tumor necrosis factor
susceptibility
ISO ISS
DNA:SNP:promoter:−308G>A(human)
MouseDO RGD
PMID:17145373
RGD:7401182
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:28492532
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cybb
cytochrome b-245 beta chain
treatment
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant DNA:deletion:cds: DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)
OMIM ClinVar RGD
PMID:1438069 PMID:1710153 PMID:1719419 PMID:2523713 PMID:2556453 PMID:2838754 PMID:3600768 PMID:8070813 PMID:8182143 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:8961628 PMID:9536098 PMID:9585602 PMID:9667376 PMID:9856476 PMID:10068684 PMID:10089913 PMID:10828042 PMID:10914676 PMID:10980575 PMID:11112388 PMID:11162142 PMID:11413138 PMID:11435314 PMID:11462241 PMID:11566256 PMID:11700292 PMID:11997083 PMID:12094329 PMID:12139950 PMID:12589359 PMID:14697745 PMID:15082894 PMID:15338276 PMID:15454837 PMID:16199547 PMID:17576681 PMID:18509647 PMID:18546332 PMID:18708296 PMID:19483051 PMID:20228266 PMID:20724480 PMID:20729109 PMID:21190454 PMID:21604087 PMID:22540226 PMID:22876374 PMID:22924737 PMID:22929960 PMID:23193493 PMID:23956436 PMID:24999735 PMID:25252997 PMID:25525159 PMID:25666294 PMID:25741868 PMID:26185101 PMID:26936803 PMID:27701760 PMID:28251166 PMID:28492532 PMID:29560547 PMID:29702544 PMID:30237823 PMID:30470980 PMID:30506560 PMID:30633606 PMID:30716179 PMID:32040803 PMID:12804147 PMID:7694872 PMID:10068684 More...
RGD:11040567 , RGD:11040562 , RGD:11040560
NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
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Dynlt3
dynein light chain Tctex-type 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139
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H2ap
H2A.P histone
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,907,962...12,908,516
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Otc
ornithine transcarbamylase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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Srpx
sushi-repeat-containing protein, X-linked
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
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Sytl5
synaptotagmin-like 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
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