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: autosomal recessive chronic granulomatous disease 4
Accession: DOID:0070193
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Definition: A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)
Synonyms: exact_synonym: CGD due to deficiency of the alpha subunit of cytochrome b; CGD4; CYBA Deficiency; autosomal recessive chronic granulomatous disease cytochrome b-negative; autosomal recessive cytochrome b-negative CGD; chronic granulomatous disease due to deficiency of CYBA; chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B
primary_id: MESH:C565533
alt_id: OMIM:233690
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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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Ankrd11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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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 chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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Banp
Btg3 associated nuclear protein
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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Car5a
carbonic anhydrase 5A
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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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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Cdh15
cadherin 15
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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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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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Cpne7
copine 7
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
OMIM CTD 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:16937026 PMID:17576681 PMID:18422995 PMID:18546332 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:21190454 PMID:22336310 PMID:22562447 PMID:22876374 PMID:22924696 PMID:23002911 PMID:23910690 PMID:25741868 PMID:26185101 PMID:26915675 PMID:26936803 PMID:27537055 PMID:27701760 PMID:27980538 PMID:28251166 PMID:28341171 PMID:28492532 PMID:28941186 PMID:29454792 PMID:29560547 PMID:30470980 PMID:30709874 PMID:30716179 PMID:31364312 PMID:31375816 PMID:31456102 PMID:31813112 PMID:32040803 PMID:32081864 PMID:33717137 PMID:34547651 PMID:35140711 PMID:35960392 PMID:36606663 More...
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Dbndd1
dysbindin domain containing 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444
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Def8
differentially expressed in FDCP 8 homolog
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638
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Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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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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Gas8
growth arrest specific 8
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
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Il17c
interleukin 17C
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Klhdc4
kelch domain containing 4
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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Mc1r
melanocortin 1 receptor
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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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...50,506,429
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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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Slc7a5
solute carrier family 7 member 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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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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Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
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Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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Spire2
spire-type actin nucleation factor 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
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Tcf25
transcription factor 25
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
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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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Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
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Zc3h18
zinc finger CCCH-type containing 18
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zfp26
zinc finger protein 26
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:50,282,337...50,324,010
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Zfpm1
zinc finger protein, multitype 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:28492532
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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