CGD4
MCID: GRN061
MIFTS: 48

Granulomatous Disease, Chronic, Autosomal Recessive, 4 (CGD4)

Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, 4

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, 4 57
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 57 29 6 39
Cyba Deficiency 57 12 73
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative 12 15
Cgd Due to Deficiency of the Alpha Subunit of Cytochrome B 57 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
Chronic Granulomatous Disease 4, Autosomal Recessive 57
Autosomal Recessive Chronic Granulomatous Disease 4 12
Cgd, Autosomal Recessive Cytochrome B-Negative 57
Autosomal Recessive Cytochrome B-Negative Cgd 12
Arcgd 73
Cgd4 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, 4

UniProtKB/Swiss-Prot : 73 Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, 4, also known as granulomatous disease, chronic, autosomal recessive, cytochrome b-negative, is related to rhinosporidiosis and acute dacryocystitis. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 4 is CYBA (Cytochrome B-245 Alpha Chain), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. Affiliated tissues include liver and neutrophil, 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.

OMIM® : 57 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) (Updated 05-Mar-2021)

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Diseases in the Chronic Granulomatous Disease family:

Granulomatous Disease, Chronic, Autosomal Recessive, 4 Granulomatous Disease, Chronic, Autosomal Recessive, 1
Granulomatous Disease, Chronic, Autosomal Recessive, 2 Granulomatous Disease, Chronic, Autosomal Recessive, 3
Granulomatous Disease, Chronic, Autosomal Recessive, 5

Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 rhinosporidiosis 10.1 DUOX2 DUOX1
2 acute dacryocystitis 10.1 DUOX2 DUOX1
3 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 DUOXA2 DUOX2
4 parasitic ichthyosporea infectious disease 10.1 DUOX2 DUOX1
5 cardiomyopathy, familial hypertrophic, 2 9.8 DUOXA2 DUOX2 DUOX1 CYBB
6 renal hypertension 9.8 NOX4 CYBB
7 congenital hypothyroidism 9.8 DUOXA2 DUOX2 DUOX1
8 ileocolitis 9.6 NOX1 GPX2 GPX1 DUOX2
9 lung abscess 9.6 NCF2 NCF1 CYBA
10 retinitis pigmentosa 47 9.6 NOX1 NCF2 NCF1
11 suppurative lymphadenitis 9.6 NCF2 NCF1 CYBB
12 granulomatous disease, chronic, autosomal recessive, 1 9.5 NCF2 NCF1 CYBB CYBA
13 ectodermal dysplasia 9.4 NCF2 NCF1 CYBB CYBA
14 granulomatous disease, chronic, x-linked 8.9 NOX1 NCF4 NCF2 NCF1 DUOX2 DUOX1
15 chronic granulomatous disease 8.9 NOX1 NCF4 NCF2 NCF1 DUOX2 DUOX1
16 hypertension, essential 8.8 NOX4 NOX1 NCF2 NCF1 DUOX2 DUOX1
17 phagocyte bactericidal dysfunction 8.7 NOX4 NOX1 NCF4 NCF2 NCF1 DUOX2

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:



Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 4

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

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 cellulitis 31 HP:0100658
5 osteomyelitis 31 HP:0002754
6 recurrent pneumonia 31 HP:0006532
7 liver abscess 31 HP:0100523
8 recurrent bacterial skin infections 31 HP:0005406
9 lymphadenopathy 31 HP:0002716
10 granulomatosis 31 HP:0002955
11 recurrent staphylococcus aureus infections 31 HP:0002726
12 eczematoid dermatitis 31 HP:0000976
13 recurrent aspergillus infections 31 HP:0002724
14 rectal abscess 31 HP:0005224
15 lymphadenitis 31 HP:0002840
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.92 CXCL2 CYBA CYBB DUOX2 DUOXA2 NCF1
2 hematopoietic system MP:0005397 9.81 CXCL2 CYBA CYBB DUOX2 DUOXA2 GPX1
3 digestive/alimentary MP:0005381 9.8 ALPI CYBA CYBB GPX1 GPX2 NCF1
4 homeostasis/metabolism MP:0005376 9.73 ALPI CYBA CYBB DUOX2 DUOXA2 GPX1
5 immune system MP:0005387 9.4 CXCL2 CYBA CYBB DUOX2 DUOXA2 GPX1

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

# Genetic test Affiliating Genes
1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 29 CYBA

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, 4

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

40
Liver, Neutrophil

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

(show all 14)
# Title Authors PMID Year
1
Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 6 57
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. 57 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. 57 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). 57 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. 6 57
2243141 1990
6
Quantitative nitroblue tetrazolium test in chronic granulomatous disease. 6 57
4384563 1968
7
Mutation of the Cyba gene encoding p22phox causes vestibular and immune defects in mice. 57
18292807 2008
8
Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. 57
11060536 2000
9
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
10
Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. 57
2770793 1989
11
Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease. 57
2713485 1989
12
Activation of neutrophil NADPH oxidase in a cell-free system. Partial purification of components and characterization of the activation process. 6
3571224 1987
13
Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization. 57
3980731 1985
14
Defensive Mutualism Rescues NADPH Oxidase Inactivation in Gut Infection. 61
27173933 2016

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

6 (show top 50) (show all 94)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYBA nsv513777 Deletion Pathogenic 2256
2 CYBA NM_000101.4(CYBA):c.269G>A (p.Arg90Gln) SNV Pathogenic 2258 rs104894513 16:88713181-88713181 16:88646773-88646773
3 CYBA NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) SNV Pathogenic 2259 rs104894514 16:88712539-88712539 16:88646131-88646131
4 CYBA NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) SNV Pathogenic 2260 rs104894515 16:88709882-88709882 16:88643474-88643474
5 CYBA NM_000101.4(CYBA):c.281A>G (p.His94Arg) SNV Pathogenic 2261 rs104894510 16:88713169-88713169 16:88646761-88646761
6 CYBA NM_000101.4(CYBA):c.287+1G>A SNV Pathogenic 2262 rs1567609091 16:88713162-88713162 16:88646754-88646754
7 CYBA NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) SNV Pathogenic 2264 rs104894511 16:88717415-88717415 16:88651007-88651007
8 CYBA NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) SNV Pathogenic 2265 rs28941476 16:88714511-88714511 16:88648103-88648103
9 CYBA NM_000101.4(CYBA):c.373G>A (p.Ala125Thr) SNV Pathogenic 2267 rs119103269 16:88709976-88709976 16:88643568-88643568
10 CYBA NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) SNV Pathogenic 68211 rs179363892 16:88713182-88713182 16:88646774-88646774
11 CYBA NM_000101.4(CYBA):c.288-15C>G SNV Pathogenic 619029 rs1567608853 16:88712620-88712620 16:88646212-88646212
12 CYBA NM_000101.4(CYBA):c.246del (p.Phe83fs) Deletion Pathogenic 619030 rs1439134665 16:88713204-88713204 16:88646796-88646796
13 CYBA NM_000101.4(CYBA):c.21del (p.Met8fs) Deletion Pathogenic 650083 rs1597374562 16:88717401-88717401 16:88650993-88650993
14 CYBA NM_000101.4(CYBA):c.166del (p.Arg56fs) Deletion Pathogenic 661264 rs1352931329 16:88713546-88713546 16:88647138-88647138
15 CYBA NC_000016.10:g.(?_88643329)_(88643581_?)del Deletion Pathogenic 830689 16:88709737-88709989
16 CYBA NC_000016.10:g.(?_88643329)_(88648134_?)del Deletion Pathogenic 833221 16:88709737-88714542
17 CYBA NM_000101.4(CYBA):c.26G>A (p.Trp9Ter) SNV Pathogenic 862425 16:88717396-88717396 16:88650988-88650988
18 CYBA NM_000101.4(CYBA):c.204-2A>G SNV Pathogenic 953311 16:88713248-88713248 16:88646840-88646840
19 CYBA NM_000101.4(CYBA):c.261C>A (p.Tyr87Ter) SNV Pathogenic 953658 16:88713189-88713189 16:88646781-88646781
20 CYBA NM_000101.4(CYBA):c.288-13_310del Deletion Pathogenic 2266 16:88712583-88712618 16:88646175-88646210
21 CYBA NM_000101.4(CYBA):c.287+2T>C SNV Likely pathogenic 965927 16:88713161-88713161 16:88646753-88646753
22 CYBA NM_000101.4(CYBA):c.295del (p.Val99fs) Deletion Likely pathogenic 941734 16:88712598-88712598 16:88646190-88646190
23 CYBA NC_000016.10:g.(?_88646106)_(88647185_?)del Deletion Likely pathogenic 831033 16:88712514-88713593
24 CYBA NM_000101.4(CYBA):c.203+102_404del Deletion Likely pathogenic 845152 16:88709945-88713407 16:88643537-88646999
25 CYBA NM_000101.4(CYBA):c.226G>A (p.Val76Met) SNV Conflicting interpretations of pathogenicity 733197 rs149344911 16:88713224-88713224 16:88646816-88646816
26 CYBA NM_000101.4(CYBA):c.479C>G (p.Pro160Arg) SNV Uncertain significance 864020 16:88709870-88709870 16:88643462-88643462
27 CYBA NM_000101.4(CYBA):c.211A>C (p.Lys71Gln) SNV Uncertain significance 946421 16:88713239-88713239 16:88646831-88646831
28 CYBA NM_000101.4(CYBA):c.574G>C (p.Asp192His) SNV Uncertain significance 948436 16:88709775-88709775 16:88643367-88643367
29 CYBA NM_000101.4(CYBA):c.288-3del Deletion Uncertain significance 950349 16:88712608-88712608 16:88646200-88646200
30 CYBA NM_000101.4(CYBA):c.452C>T (p.Pro151Leu) SNV Uncertain significance 950463 16:88709897-88709897 16:88643489-88643489
31 CYBA NM_000101.4(CYBA):c.94C>T (p.Arg32Cys) SNV Uncertain significance 848548 16:88714487-88714487 16:88648079-88648079
32 CYBA NM_000101.4(CYBA):c.505G>A (p.Glu169Lys) SNV Uncertain significance 851807 16:88709844-88709844 16:88643436-88643436
33 CYBA NM_000101.4(CYBA):c.304G>A (p.Gly102Ser) SNV Uncertain significance 853154 16:88712589-88712589 16:88646181-88646181
34 CYBA NM_000101.4(CYBA):c.486G>C (p.Glu162Asp) SNV Uncertain significance 858015 16:88709863-88709863 16:88643455-88643455
35 CYBA NM_000101.4(CYBA):c.567G>A (p.Pro189=) SNV Uncertain significance 859385 16:88709782-88709782 16:88643374-88643374
36 CYBA NM_000101.4(CYBA):c.577G>A (p.Glu193Lys) SNV Uncertain significance 844416 16:88709772-88709772 16:88643364-88643364
37 CYBA NM_000101.4(CYBA):c.223G>A (p.Ala75Thr) SNV Uncertain significance 844815 16:88713227-88713227 16:88646819-88646819
38 CYBA NM_000101.4(CYBA):c.421C>T (p.Arg141Trp) SNV Uncertain significance 664410 rs776763356 16:88709928-88709928 16:88643520-88643520
39 CYBA NM_000101.4(CYBA):c.241G>C (p.Gly81Arg) SNV Uncertain significance 664427 rs754773481 16:88713209-88713209 16:88646801-88646801
40 CYBA NM_000101.4(CYBA):c.293C>T (p.Ser98Leu) SNV Uncertain significance 664770 rs201755210 16:88712600-88712600 16:88646192-88646192
41 CYBA NM_000101.4(CYBA):c.128+5C>G SNV Uncertain significance 651593 rs749332805 16:88714448-88714448 16:88648040-88648040
42 CYBA NM_000101.4(CYBA):c.422G>A (p.Arg141Gln) SNV Uncertain significance 654116 rs1242215580 16:88709927-88709927 16:88643519-88643519
43 CYBA NM_000101.4(CYBA):c.350C>T (p.Ala117Val) SNV Uncertain significance 655008 rs868210009 16:88712543-88712543 16:88646135-88646135
44 CYBA NM_000101.4(CYBA):c.128+5C>T SNV Uncertain significance 657609 rs749332805 16:88714448-88714448 16:88648040-88648040
45 CYBA NM_000101.4(CYBA):c.475C>T (p.Pro159Ser) SNV Uncertain significance 638954 rs558222148 16:88709874-88709874 16:88643466-88643466
46 CYBA NM_000101.4(CYBA):c.527C>T (p.Ala176Val) SNV Uncertain significance 642309 rs772492771 16:88709822-88709822 16:88643414-88643414
47 CYBA NM_000101.4(CYBA):c.58+4_58+7del Microsatellite Uncertain significance 643066 rs771926427 16:88717357-88717360 16:88650949-88650952
48 CYBA NM_000101.4(CYBA):c.199C>T (p.Arg67Cys) SNV Uncertain significance 645632 rs765388584 16:88713513-88713513 16:88647105-88647105
49 CYBA NC_000016.9:g.(?_88709737)_(88718353_?)dup Duplication Uncertain significance 646964 16:88709737-88718353 16:88643329-88651945
50 CYBA NM_000101.4(CYBA):c.539C>G (p.Pro180Arg) SNV Uncertain significance 649833 rs1207976536 16:88709810-88709810 16:88643402-88643402

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

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, 4

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, 4.

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Pathways related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 NOX1 NCF4 NCF2 NCF1 CYBB CYBA
2
Show member pathways
13.14 NOX4 NOX1 NCF4 NCF2 NCF1 CYBB
3
Show member pathways
12.87 NOX1 NCF4 NCF2 NCF1 CYBB CYBA
4
Show member pathways
12.81 NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
5
Show member pathways
12.76 GPX2 GPX1 DUOXA2 DUOX2 DUOX1
6
Show member pathways
12.7 NCF4 NCF2 NCF1 CYBB CYBA
7
Show member pathways
12.5 NOX4 NCF4 NCF2 NCF1 CYBB CYBA
8
Show member pathways
12.32 NCF4 NCF2 NCF1 CYBB CYBA
9
Show member pathways
12.25 NOX1 NCF2 NCF1 CYBB CYBA
10
Show member pathways
12.25 NCF4 NCF2 NCF1 CYBB CYBA CXCL2
11
Show member pathways
12.22 NCF2 NCF1 CYBB CYBA
12
Show member pathways
12.13 NCF4 NCF2 NCF1 CYBB CYBA
13 12.04 CYBB CYBA CXCL2
14 11.98 NCF4 NCF2 NCF1 CYBB CYBA
15 11.96 NCF2 NCF1 CYBB CYBA
16 11.95 NOX1 NCF2 NCF1 CYBA
17 11.87 NOX1 NCF4 NCF2 NCF1 CYBA
18 11.77 NOX4 NOX1 CYBB
19
Show member pathways
11.52 NCF4 NCF2 NCF1 CYBB CYBA
20
Show member pathways
11.22 DUOX2 DUOX1
21 11.16 NOX4 GPX1 CYBA
22 10.99 NCF4 CYBA
23
Show member pathways
10.97 NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
24 10.55 NOX1 NCF4 NCF2 NCF1 CYBB CYBA

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.62 NOX4 DUOX2 DUOX1 CYBA
2 cell leading edge GO:0031252 9.43 DUOXA2 DUOX2 DUOX1
3 perinuclear endoplasmic reticulum GO:0097038 9.33 NOX4 CYBB CYBA
4 NADPH oxidase complex GO:0043020 9.28 NOX4 NOX1 NCF4 NCF2 NCF1 DUOX2
5 phagolysosome GO:0032010 9.13 NCF4 NCF2 NCF1

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

(show all 26)
# 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 defense response GO:0006952 9.91 NOX4 NOX1 DUOX2 DUOX1 CYBB CXCL2
4 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.88 NCF4 NCF2 NCF1 CYBB CYBA
5 electron transport chain GO:0022900 9.88 NOX4 NCF2 NCF1 GPX2 CYBB CYBA
6 response to oxidative stress GO:0006979 9.85 GPX2 GPX1 DUOX2 DUOX1
7 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.85 NCF4 NCF2 NCF1 CYBB CYBA
8 cell redox homeostasis GO:0045454 9.85 NCF4 NCF2 NCF1 GPX1 CYBB CYBA
9 cellular oxidant detoxification GO:0098869 9.81 GPX2 GPX1 DUOX2 DUOX1
10 reactive oxygen species metabolic process GO:0072593 9.73 NOX4 DUOX1 CYBA
11 superoxide metabolic process GO:0006801 9.73 NOX4 NCF4 NCF2 NCF1 CYBB CYBA
12 hydrogen peroxide catabolic process GO:0042744 9.71 GPX1 DUOX2 DUOX1
13 positive regulation of cell motility GO:2000147 9.7 DUOXA2 DUOX2 DUOX1
14 hydrogen peroxide biosynthetic process GO:0050665 9.67 DUOX2 DUOX1 CYBA
15 cellular response to cadmium ion GO:0071276 9.63 NCF1 CYBB
16 respiratory burst GO:0045730 9.63 NOX1 NCF4 NCF2 NCF1 CYBB CYBA
17 cellular response to gamma radiation GO:0071480 9.62 NOX4 CYBA
18 positive regulation of wound healing GO:0090303 9.62 DUOX2 DUOX1
19 thyroid hormone generation GO:0006590 9.61 DUOX2 DUOX1
20 hormone biosynthetic process GO:0042446 9.61 DUOX2 DUOX1
21 hydrogen peroxide metabolic process GO:0042743 9.6 NOX1 DUOXA2
22 cellular response to L-glutamine GO:1904845 9.58 CYBB CYBA
23 response to aldosterone GO:1904044 9.58 CYBB CYBA
24 cuticle development GO:0042335 9.57 DUOX2 DUOX1
25 cellular response to oxidative stress GO:0034599 9.56 NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
26 superoxide anion generation GO:0042554 9.23 NOX4 NOX1 NCF2 NCF1 DUOX2 DUOX1

Molecular functions related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.77 NOX4 DUOX2 DUOX1 CYBB CYBA
2 oxidoreductase activity GO:0016491 9.76 NOX4 NOX1 GPX2 GPX1 DUOX2 DUOX1
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 9.5 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 9.28 NOX4 NOX1 NCF4 NCF2 NCF1 DUOX2

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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