ARCGD
MCID: GRN048
MIFTS: 47

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative (ARCGD)

Categories: Bone diseases, Genetic diseases, Immune diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 56 29 6 39 71
Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 56 29 13
Cyba Deficiency 56 12 73
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative 12 15
Cgd Due to Deficiency of the Alpha Subunit of Cytochrome B 56 12
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 73
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 73
Chronic Granulomatous Disease Due to Deficiency of Cyba 12
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 73
Cgd, Autosomal Recessive Cytochrome B-Negative 56
Autosomal Recessive Cytochrome B-Negative Cgd 12
Arcgd 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in first decade
four types of cgd with basically identical clinical phenotypes
x-linked recessive cytochrome b-negative cgd
autosomal recessive cytochrome b-positive cgd, type i
autosomal recessive cytochrome b-positive cgd, type ii


HPO:

31
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

OMIM : 56 Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.' (233690)

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative, also known as chronic granulomatous disease, autosomal, due to deficiency of cyba, is related to familial thyroid dyshormonogenesis and cardiomyopathy, familial hypertrophic, 2. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative is CYBA (Cytochrome B-245 Alpha Chain), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. Affiliated tissues include neutrophil, skin and testes, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A chronic granulomatous disease characterized by autosomal recessive inheritance that has material basis in mutation in the CYBA gene on chromosome 16q24.2.

UniProtKB/Swiss-Prot : 73 Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:



Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 immunodeficiency 31 HP:0002721
4 osteomyelitis 31 HP:0002754
5 cellulitis 31 HP:0100658
6 recurrent pneumonia 31 HP:0006532
7 recurrent bacterial skin infections 31 HP:0005406
8 liver abscess 31 HP:0100523
9 lymphadenopathy 31 HP:0002716
10 granulomatosis 31 HP:0002955
11 eczematoid dermatitis 31 HP:0000976
12 lymphadenitis 31 HP:0002840
13 recurrent staphylococcus aureus infections 31 HP:0002726
14 recurrent aspergillus infections 31 HP:0002724
15 rectal abscess 31 HP:0005224
16 decreased activity of nadph oxidase 31 HP:0003206
17 discoid lupus rash 31 HP:0007417
18 absence of bactericidal oxidative respiratory burst in phagocytes 31 HP:0002723
19 recurrent e. coli infections 31 HP:0002740
20 recurrent serratia marcescens infections 31 HP:0002741
21 recurrent klebsiella infections 31 HP:0002742
22 recurrent burkholderia cepacia infections 31 HP:0002842
23 impaired oxidative burst 31 HP:0003203
24 deficiency or absence of cytochrome b(-245) 31 HP:0003514

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
Laboratory Abnormalities:
decreased activity of nadph oxidase
deficiency or absence of cytochrome b(-245)
deficiency or absence of p91-phox protein
deficiency or absence of p22-phox protein
negative nitroblue tetrazolium (nbt) reduction test

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Skin Nails Hair Skin:
eczematoid dermatitis
dermatitis, infectious, due to immunodeficiency impetigo
discoid lupus in carriers or adults with mild disease

Respiratory Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

Clinical features from OMIM:

233690

MGI Mouse Phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.7 ALPI CYBA CYBB GPX1 GPX2 NCF1
2 homeostasis/metabolism MP:0005376 9.7 ALPI CYBA CYBB DUOX2 GPX1 GPX2
3 immune system MP:0005387 9.28 CYBA CYBB DUOXA2 GPX1 GPX2 NCF1

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

# Genetic test Affiliating Genes
1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 29 CYBA
2 Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 29

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

40
Neutrophil, Skin, Testes, Bone, Liver, Monocytes, Thyroid

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

(show all 15)
# Title Authors PMID Year
1
Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 56 6
18422995 2008
2
A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. 56 6
12073015 2002
3
Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. 56 6
10759707 2000
4
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). 56 6
1415254 1992
5
Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. 56 6
2243141 1990
6
Quantitative nitroblue tetrazolium test in chronic granulomatous disease. 56 6
4384563 1968
7
Chronic Granulomatous Disease 6
22876374 2012
8
Mutation of the Cyba gene encoding p22phox causes vestibular and immune defects in mice. 56
18292807 2008
9
Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. 56
11060536 2000
10
Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. 6
1763037 1991
11
Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. 56
2770793 1989
12
Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease. 56
2713485 1989
13
Activation of neutrophil NADPH oxidase in a cell-free system. Partial purification of components and characterization of the activation process. 6
3571224 1987
14
Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization. 56
3980731 1985
15
Defensive Mutualism Rescues NADPH Oxidase Inactivation in Gut Infection. 61
27173933 2016

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

6 (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYBA nsv513777deletion Pathogenic 2256
2 CYBA CYBA, 1-BP DEL, 272Cdeletion Pathogenic 2257
3 CYBA NM_000101.4(CYBA):c.269G>A (p.Arg90Gln)SNV Pathogenic 2258 rs104894513 16:88713181-88713181 16:88646773-88646773
4 CYBA NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)SNV Pathogenic 2259 rs104894514 16:88712539-88712539 16:88646131-88646131
5 CYBA NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)SNV Pathogenic 2260 rs104894515 16:88709882-88709882 16:88643474-88643474
6 CYBA NM_000101.4(CYBA):c.281A>G (p.His94Arg)SNV Pathogenic 2261 rs104894510 16:88713169-88713169 16:88646761-88646761
7 CYBA NM_000101.4(CYBA):c.287+1G>ASNV Pathogenic 2262 rs1567609091 16:88713162-88713162 16:88646754-88646754
8 CYBA NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)SNV Pathogenic 2264 rs104894511 16:88717415-88717415 16:88651007-88651007
9 CYBA NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)SNV Pathogenic 2265 rs28941476 16:88714511-88714511 16:88648103-88648103
10 CYBA CYBA, 36-BP DELdeletion Pathogenic 2266
11 CYBA NM_000101.4(CYBA):c.373G>A (p.Ala125Thr)SNV Pathogenic 2267 rs119103269 16:88709976-88709976 16:88643568-88643568
12 CYBA NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)SNV Pathogenic 68211 rs179363892 16:88713182-88713182 16:88646774-88646774
13 CYBA NM_000101.4(CYBA):c.288-15C>GSNV Pathogenic 619029 rs1567608853 16:88712620-88712620 16:88646212-88646212
14 CYBA NM_000101.4(CYBA):c.246del (p.Phe83fs)deletion Pathogenic 619030 rs1439134665 16:88713204-88713204 16:88646796-88646796
15 CYBA NM_000101.4(CYBA):c.166del (p.Arg56fs)deletion Pathogenic 661264 16:88713546-88713546 16:88647138-88647138
16 CYBA NM_000101.4(CYBA):c.21del (p.Met8fs)deletion Pathogenic 650083 16:88717401-88717401 16:88650993-88650993
17 CYBA NM_000101.4(CYBA):c.524_526CGG[3] (p.Ala176dup)short repeat Conflicting interpretations of pathogenicity 418151 rs760275837 16:88709819-88709820 16:88643411-88643412
18 CYBA NM_000101.4(CYBA):c.274G>A (p.Val92Ile)SNV Uncertain significance 466301 rs202179890 16:88713176-88713176 16:88646768-88646768
19 CYBA NM_000101.4(CYBA):c.386_433dup (p.Glu129_Ile144dup)duplication Uncertain significance 466303 rs1555540977 16:88709915-88709916 16:88643507-88643508
20 CYBA NM_000101.4(CYBA):c.370-5C>TSNV Uncertain significance 466302 rs778207143 16:88709984-88709984 16:88643576-88643576
21 CYBA NM_000101.4(CYBA):c.203+5G>ASNV Uncertain significance 534660 rs200590340 16:88713504-88713504 16:88647096-88647096
22 CYBA NC_000016.9:g.(?_88709737)_(88718353_?)dupduplication Uncertain significance 646964 16:88709737-88718353 16:88643329-88651945
23 CYBA NM_000101.4(CYBA):c.128+5C>TSNV Uncertain significance 657609 16:88714448-88714448 16:88648040-88648040
24 CYBA NM_000101.4(CYBA):c.128+5C>GSNV Uncertain significance 651593 16:88714448-88714448 16:88648040-88648040
25 CYBA NM_000101.4(CYBA):c.58+4_58+7delshort repeat Uncertain significance 643066 16:88717357-88717360 16:88650949-88650952
26 CYBA NM_000101.4(CYBA):c.173A>G (p.Lys58Arg)SNV Uncertain significance 534659 rs200016139 16:88713539-88713539 16:88647131-88647131
27 CYBA NM_000101.4(CYBA):c.193A>G (p.Met65Val)SNV Uncertain significance 573949 rs1567609300 16:88713519-88713519 16:88647111-88647111
28 CYBA NM_000101.4(CYBA):c.166C>T (p.Arg56Trp)SNV Uncertain significance 567319 rs767148046 16:88713546-88713546 16:88647138-88647138
29 CYBA NM_000101.4(CYBA):c.395C>T (p.Thr132Met)SNV Uncertain significance 567401 rs562308643 16:88709954-88709954 16:88643546-88643546
30 CYBA NM_000101.4(CYBA):c.539C>G (p.Pro180Arg)SNV Uncertain significance 649833 16:88709810-88709810 16:88643402-88643402
31 CYBA NM_000101.4(CYBA):c.527C>T (p.Ala176Val)SNV Uncertain significance 642309 16:88709822-88709822 16:88643414-88643414
32 CYBA NM_000101.4(CYBA):c.475C>T (p.Pro159Ser)SNV Uncertain significance 638954 16:88709874-88709874 16:88643466-88643466
33 CYBA NM_000101.4(CYBA):c.422G>A (p.Arg141Gln)SNV Uncertain significance 654116 16:88709927-88709927 16:88643519-88643519
34 CYBA NM_000101.4(CYBA):c.421C>T (p.Arg141Trp)SNV Uncertain significance 664410 16:88709928-88709928 16:88643520-88643520
35 CYBA NM_000101.4(CYBA):c.350C>T (p.Ala117Val)SNV Uncertain significance 655008 16:88712543-88712543 16:88646135-88646135
36 CYBA NM_000101.4(CYBA):c.293C>T (p.Ser98Leu)SNV Uncertain significance 664770 16:88712600-88712600 16:88646192-88646192
37 CYBA NM_000101.4(CYBA):c.241G>C (p.Gly81Arg)SNV Uncertain significance 664427 16:88713209-88713209 16:88646801-88646801
38 CYBA NM_000101.4(CYBA):c.199C>T (p.Arg67Cys)SNV Uncertain significance 645632 16:88713513-88713513 16:88647105-88647105
39 CYBA NM_000101.3(CYBA):c.-70G>ASNV Likely benign 556199 rs72550704 16:88717491-88717491 16:88651083-88651083
40 CYBA NM_000101.4(CYBA):c.549C>G (p.Pro183=)SNV Likely benign 534663 rs1327160850 16:88709800-88709800 16:88643392-88643392
41 CYBA NM_000101.4(CYBA):c.237G>C (p.Leu79=)SNV Benign 255126 rs2228472 16:88713213-88713213 16:88646805-88646805
42 CYBA NM_000101.4(CYBA):c.480G>A (p.Pro160=)SNV Benign 284654 rs72547284 16:88709869-88709869 16:88643461-88643461
43 CYBA NM_000101.4(CYBA):c.214T>C (p.Tyr72His)SNV Benign 2263 rs4673 16:88713236-88713236 16:88646828-88646828

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 CYBA p.Arg90Gln VAR_005123 rs104894513
2 CYBA p.His94Arg VAR_005124 rs104894510
3 CYBA p.Ser118Arg VAR_005125 rs104894514
4 CYBA p.Pro156Gln VAR_005126 rs104894515
5 CYBA p.Gly24Arg VAR_012755 rs28941476
6 CYBA p.Gly25Val VAR_060576 rs179363891
7 CYBA p.Leu52Pro VAR_060577 rs179363890
8 CYBA p.Glu53Val VAR_060578 rs179363893
9 CYBA p.Arg90Trp VAR_060579 rs179363892
10 CYBA p.Ala124Val VAR_060580 rs179363894
11 CYBA p.Ala125Thr VAR_060581 rs119103269
12 CYBA p.Gly25Asp VAR_071860 rs179363891

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative.

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Pathways related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 NOX1 NCF4 NCF2 NCF1 CYBB CYBA
2
Show member pathways
13.15 NOX4 NOX1 NCF4 NCF2 NCF1 CYBB
3
Show member pathways
12.92 NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
4
Show member pathways
12.88 NOX1 NCF4 NCF2 NCF1 CYBB CYBA
5
Show member pathways
12.49 NOX4 NCF4 NCF2 NCF1 CYBB CYBA
6
Show member pathways
12.32 NCF4 NCF2 NCF1 CYBB CYBA
7
Show member pathways
12.25 NOX1 NCF2 NCF1 CYBB CYBA
8
Show member pathways
12.21 NCF2 NCF1 CYBB CYBA
9
Show member pathways
12.18 NCF4 NCF2 NCF1 CYBB CYBA CXCL2
10
Show member pathways
12.13 NCF4 NCF2 NCF1 CYBB CYBA
11 12.03 CYBB CYBA CXCL2
12 11.98 NCF4 NCF2 NCF1 CYBB CYBA
13 11.95 NOX1 NCF2 NCF1 CYBA
14 11.91 NCF2 NCF1 CYBB CYBA
15 11.83 NOX1 NCF4 NCF2 NCF1 CYBA
16 11.76 NOX4 NOX1 CYBB
17
Show member pathways
11.52 NCF4 NCF2 NCF1 CYBB CYBA
18
Show member pathways
11.21 DUOX2 DUOX1
19 11.16 NOX4 GPX1 CYBA
20 10.97 NCF4 CYBA
21
Show member pathways
10.97 NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
22 10.55 NOX1 NCF4 NCF2 NCF1 CYBB CYBA

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.1 NOX4 NOX1 NCF1 ITM2B DUOXA2 DUOX2
2 cell GO:0005623 9.86 NOX4 NOX1 NCF4 NCF2 NCF1 GPX1
3 apical plasma membrane GO:0016324 9.67 NOX4 DUOX2 DUOX1 CYBA
4 cell leading edge GO:0031252 9.5 DUOXA2 DUOX2 DUOX1
5 perinuclear endoplasmic reticulum GO:0097038 9.33 NOX4 CYBB CYBA
6 NADPH oxidase complex GO:0043020 9.28 NOX4 NOX1 NCF4 NCF2 NCF1 DUOX2
7 phagolysosome GO:0032010 9.13 NCF4 NCF2 NCF1

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.06 NOX4 NOX1 NCF4 NCF2 NCF1 GPX2
2 inflammatory response GO:0006954 9.99 NOX4 NOX1 CYBB CYBA CXCL2
3 innate immune response GO:0045087 9.93 NCF2 NCF1 CYBB CYBA
4 defense response GO:0006952 9.93 NOX4 NOX1 DUOX2 DUOX1 CYBB CXCL2
5 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.89 NCF4 NCF2 NCF1 CYBB CYBA
6 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.88 NCF4 NCF2 NCF1 CYBB CYBA
7 electron transport chain GO:0022900 9.88 NOX4 NCF2 NCF1 GPX2 CYBB CYBA
8 response to oxidative stress GO:0006979 9.85 GPX2 GPX1 DUOX2 DUOX1
9 cell redox homeostasis GO:0045454 9.85 NCF4 NCF2 NCF1 GPX1 CYBB CYBA
10 cellular oxidant detoxification GO:0098869 9.81 GPX2 GPX1 DUOX2 DUOX1
11 cellular response to oxidative stress GO:0034599 9.76 NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
12 reactive oxygen species metabolic process GO:0072593 9.73 NOX4 DUOX1 CYBA
13 hydrogen peroxide biosynthetic process GO:0050665 9.73 DUOX2 DUOX1 CYBB CYBA
14 superoxide metabolic process GO:0006801 9.73 NOX4 NCF4 NCF2 NCF1 CYBB CYBA
15 hydrogen peroxide catabolic process GO:0042744 9.71 GPX1 DUOX2 DUOX1
16 positive regulation of cell motility GO:2000147 9.7 DUOXA2 DUOX2 DUOX1
17 cellular response to cadmium ion GO:0071276 9.63 NCF1 CYBB
18 cellular response to gamma radiation GO:0071480 9.62 NOX4 CYBA
19 positive regulation of wound healing GO:0090303 9.62 DUOX2 DUOX1
20 thyroid hormone generation GO:0006590 9.61 DUOX2 DUOX1
21 hormone biosynthetic process GO:0042446 9.61 DUOX2 DUOX1
22 hydrogen peroxide metabolic process GO:0042743 9.6 NOX1 DUOXA2
23 cellular response to L-glutamine GO:1904845 9.58 CYBB CYBA
24 response to aldosterone GO:1904044 9.58 CYBB CYBA
25 cuticle development GO:0042335 9.57 DUOX2 DUOX1
26 respiratory burst GO:0045730 9.43 NOX1 NCF4 NCF2 NCF1 CYBB CYBA
27 superoxide anion generation GO:0042554 9.23 NOX4 NOX1 NCF2 NCF1 DUOX2 DUOX1

Molecular functions related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.76 NOX4 NOX1 GPX2 GPX1 DUOX2 DUOX1
2 heme binding GO:0020037 9.72 NOX4 DUOX2 DUOX1 CYBB CYBA
3 SH3 domain binding GO:0017124 9.61 NCF1 GPX1 CYBA
4 superoxide-generating NADPH oxidase activator activity GO:0016176 9.58 NCF4 NCF2 NCF1
5 peroxidase activity GO:0004601 9.56 GPX2 GPX1 DUOX2 DUOX1
6 NAD(P)H oxidase activity GO:0016174 9.54 NOX4 DUOX2 DUOX1
7 NADP binding GO:0050661 9.48 NOX1 DUOX1
8 glutathione peroxidase activity GO:0004602 9.46 GPX2 GPX1
9 electron transfer activity GO:0009055 9.43 NOX4 NCF2 NCF1 GPX2 CYBB CYBA
10 superoxide-generating NADPH oxidase activity GO:0016175 9.23 NOX4 NOX1 NCF2 NCF1 DUOX2 DUOX1

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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