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: phagocyte bactericidal dysfunction
Accession: DOID:3262
browse the term
Definition: A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. (DO)
Synonyms: exact_synonym: phagocyte bactericidal dysfunctions; phagocytic dysfunction
primary_id: MESH:D010585
For additional species annotation, visit the
Alliance of Genome Resources .
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Cyba
cytochrome b-245 alpha chain
ISO
DNA:mutations: :multiple (human)
RGD
PMID:18422995
RGD:4779762
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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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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Cybc1
cytochrome b-245 chaperone 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5
OMIM ClinVar
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:8168815 PMID:9445163 PMID:9536098 PMID:10440830 PMID:10759707 PMID:10910929 PMID:10914676 PMID:12073015 PMID:16199547 PMID:17576681 PMID:18422995 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:21190454 PMID:22336310 PMID:22876374 PMID:22924696 PMID:23910690 PMID:25741868 PMID:26185101 PMID:26915675 PMID:26936803 PMID:27537055 PMID:27701760 PMID:27980538 PMID:28341171 PMID:28492532 PMID:29454792 PMID:30470980 PMID:30709874 PMID:31456102 PMID:32040803 PMID:32081864 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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LOC684709
similar to putative membrane protein Re9
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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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:25741868 PMID:25937994 PMID:26272171 PMID:28492532 PMID:30290665 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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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, DUE TO NCF4 DEFICIENCY | 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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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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Arid4b
AT-rich interaction domain 4B
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:51,138,419...51,262,956
Ensembl chr17:51,138,535...51,262,906
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Coa6
cytochrome c oxidase assembly factor 6
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
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Edaradd
EDAR-associated death domain
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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Ero1b
endoplasmic reticulum oxidoreductase 1 beta
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398
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Ggps1
geranylgeranyl diphosphate synthase 1
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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Gng4
G protein subunit gamma 4
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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Gpr137b
G protein-coupled receptor 137B
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:86,003,630...86,041,841
Ensembl chr17:85,966,921...86,041,835
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Heatr1
HEAT repeat containing 1
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,051,700...58,093,895
Ensembl chr17:58,051,700...58,093,948
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Irf2bp2
interferon regulatory factor 2 binding protein 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642
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Lgals8
galectin 8
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,024,652...58,052,764
Ensembl chr17:58,028,105...58,052,764
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Lyst
lysosomal trafficking regulator
IAGP ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar OMIM RGD
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:9536098 PMID:10482950 PMID:10648412 PMID:11857544 PMID:15896657 PMID:16199547 PMID:17554367 PMID:17576681 PMID:18485661 PMID:21878672 PMID:23436631 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25640679 PMID:25741868 PMID:26193622 PMID:26597256 PMID:26915675 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:30383631 PMID:30899265 PMID:31906877 PMID:10384041 More...
RGD:633300
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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Mt1m
metallothionein 1M
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr20:3,159,023...3,159,401
Ensembl chr 5:119,728,811...119,730,073 Ensembl chr19:119,728,811...119,730,073
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Nid1
nidogen 1
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:86,085,046...86,158,277
Ensembl chr17:86,085,077...86,158,267
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Rbm34
RNA binding motif protein 34
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Tarbp1
TAR (HIV-1) RNA binding protein 1
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261
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Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Tomm20
translocase of outer mitochondrial membrane 20
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
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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) ClinVar Annotator: match by term: Chronic granulomatous disease CTD Direct Evidence: marker/mechanism DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human) DNA:mutations:multiple (human)
ClinVar CTD RGD
PMID:1763037 PMID:2243141 PMID:3368442 PMID:8168815 PMID:9445163 PMID:9536098 PMID:10440830 PMID:10759707 PMID:10910929 PMID:16199547 PMID:17576681 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:21190454 PMID:22336310 PMID:22876374 PMID:22924696 PMID:25741868 PMID:26185101 PMID:26936803 PMID:27537055 PMID:27701760 PMID:28341171 PMID:28492532 PMID:29454792 PMID:30709874 PMID:31456102 PMID:32040803 PMID:32081864 PMID:33717137 PMID:1415254 PMID:10759707 PMID:2243141 More...
RGD:1600791 , RGD:11040541 , RGD:734861
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 ClinVar Annotator: match by term: Chronic granulomatous disease CTD Direct Evidence: marker/mechanism|therapeutic DNA:mutations:promoter:
ClinVar CTD RGD
PMID:1347621 PMID:8634410 PMID:11045425 PMID:11122248 PMID:11498749 PMID:17293536 PMID:18546332 PMID:20729109 PMID:21190454 PMID:21278736 PMID:22924737 PMID:23859418 PMID:24276928 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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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
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:8810255 PMID:25739914 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:2682973 PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28783691 PMID:28864286 PMID:29107076 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 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:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17572155 PMID:18025461 PMID:18033247 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:25739914 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: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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Il4r
interleukin 4 receptor
no_association
ISO
DNA:mutation:cds:p.Q576R(human)
RGD
PMID:9537881
RGD:11530003
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1
ClinVar
PMID:25741868 PMID:32207811
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1
ClinVar OMIM RGD
PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 PMID:17881745 PMID:17942886 PMID:18591410 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:19577286 PMID:20032313 PMID:20048285 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21107604 PMID:21288777 PMID:21324546 PMID:21690253 PMID:21792878 PMID:22030463 PMID:22084479 PMID:22581330 PMID:22591296 PMID:22751495 PMID:22859607 PMID:23342295 PMID:23584561 PMID:23584591 PMID:23659370 PMID:23830147 PMID:23926297 PMID:24033266 PMID:24452316 PMID:24627079 PMID:24628715 PMID:24995504 PMID:25038750 PMID:25359994 PMID:25543043 PMID:25739182 PMID:25741868 PMID:25873174 PMID:26384563 PMID:26702067 PMID:26743515 PMID:27091139 PMID:27226025 PMID:27302695 PMID:27379089 PMID:27799162 PMID:27884935 PMID:27980540 PMID:28098554 PMID:28166811 PMID:28197791 PMID:28253502 PMID:28315006 PMID:28492532 PMID:28579554 PMID:28587312 PMID:28977911 PMID:29077208 PMID:29162862 PMID:29296824 PMID:29330115 PMID:29868029 PMID:29931222 PMID:30940614 PMID:31737384 PMID:31770611 PMID:32047491 PMID:32231398 PMID:32248557 PMID:17676033 More...
RGD:6892956
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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C1H9orf66
chromosome 1 open reading frame, human C9orf66
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
PMID:9536098 PMID:14722525 PMID:16199547 PMID:17576681 PMID:19776401 PMID:20226292 PMID:20622910 PMID:22476911 PMID:24797421 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26680607 PMID:27398204 PMID:27980540 PMID:28492532 PMID:31596517 More...
G
Dock8
dedicator of cytokinesis 8
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE DNA:mutation:cds:
OMIM ClinVar RGD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:22006977 PMID:22476911 PMID:24033266 PMID:24797421 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26573532 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27398204 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28492532 PMID:28750028 PMID:29058101 PMID:29483666 PMID:29867916 PMID:31596517 PMID:21763205 More...
RGD:40907054
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 PMID:31596517 More...
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Zfp341
zinc finger protein 341
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691
NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 PMID:33771552 More...
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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C1H9orf66
chromosome 1 open reading frame, human C9orf66
ISO
ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:9536098 PMID:14722525 PMID:16199547 PMID:17576681 PMID:19776401 PMID:20226292 PMID:20622910 PMID:22476911 PMID:24797421 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26680607 PMID:27398204 PMID:27980540 PMID:28492532 PMID:31596517 More...
G
Dock8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
CTD ClinVar
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:22006977 PMID:22476911 PMID:24033266 PMID:24797421 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26573532 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27398204 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28492532 PMID:28750028 PMID:29058101 PMID:29483666 PMID:29867916 PMID:31596517 More...
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Dop1a
DOP1 leucine zipper like protein A
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:24698316
NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16112032
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 PMID:31596517 More...
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Pgm3
phosphoglucomutase 3
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:3500672 PMID:24698316
NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyper-IgE syndrome
CTD ClinVar
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21792878 PMID:22751495 PMID:24033266 PMID:25038750 PMID:25741868 PMID:26384563 PMID:27226025 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28315006 PMID:28492532 PMID:29077208 PMID:29868029 More...
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Il6r
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive
OMIM ClinVar
PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Cybb
cytochrome b-245 beta chain
ISO
ClinVar Annotator: match by term: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OMIM ClinVar
PMID:17293536 PMID:21278736 PMID:25741868 PMID:28492532
NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
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Tyk2
tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27872624 PMID:28492532 PMID:29725107 PMID:30578352 PMID:31118190 PMID:33667394 More...
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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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:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 PMID:2072910 PMID:2523713 PMID:2556453 PMID:2838754 PMID:3600768 PMID:8070813 PMID:8101486 PMID:8182143 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:8961628 PMID:9536098 PMID:9585602 PMID:9667376 PMID:9774399 PMID:9856476 PMID:10068684 PMID:10089913 PMID:10627478 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:19410294 PMID:19483051 PMID:20228266 PMID:20724480 PMID:20729109 PMID:21190454 PMID:21604087 PMID:21659519 PMID:22540226 PMID:22876374 PMID:22924696 PMID:22924737 PMID:22929960 PMID:23193493 PMID:23859418 PMID:23910690 PMID:23956436 PMID:24276928 PMID:24943880 PMID:24999735 PMID:25252997 PMID:25525159 PMID:25666294 PMID:25741868 PMID:26185101 PMID:26453586 PMID:26936803 PMID:27701760 PMID:27853979 PMID:27980538 PMID:28168067 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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all