CGD2
MCID: GRN050
MIFTS: 51

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii (CGD2)

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-Positive, Type Ii:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 57
Chronic Granulomatous Disease Due to Deficiency of Ncf-2 57 12 13
Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 2 29 6
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii 12 15
Cdg2 57 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii 75
Granulomatous Disease, Chronic, Cytochrome-B-Positive 2, Autosomal Recessive 75
Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii 57
Granulomatous Disease, Chronic, Due to Ncf2 Deficiency 57
Neutrophil Cytosol Factor 2, Deficiency of 57
Deficiency of Neutrophil Cytosol Factor 2 75
Avellino Corneal Dystrophy 73
P67-Phox, Deficiency of 57
Deficiency of P67-Phox 12
Ncf2, Deficiency of 57
P67-Phox Deficiency 75
Deficiency of Ncf2 12
Ncf2 Deficiency 75
Cgd2 75

Characteristics:

OMIM:

57
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
autosomal recessive cytochrome b-negative cgd


HPO:

32
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 Granulomatous disease, chronic, cytochrome-b-positive 2, 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.

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii, also known as chronic granulomatous disease due to deficiency of ncf-2, is related to chronic granulomatous disease and corneal dystrophy, avellino type, and has symptoms including glare - eye symptom An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii is NCF2 (Neutrophil Cytosolic Factor 2), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. 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 NCF2 gene on chromosome 1q25.

Description from OMIM: 233710

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-Positive, Type Ii:



Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
Skin Nails Hair Skin:
eczematoid dermatitis
discoid lupus in carriers or adults with mild disease
dermatitis, infectious, due to immunodeficiency
impetigo

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Laboratory Abnormalities:
decreased activity of nadph oxidase
negative nitroblue tetrazolium (nbt) reduction test
presence of cytochrome b(-245)
deficiency or absence of p67-phox protein (type ii)

Respiratory Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency


Clinical features from OMIM:

233710

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 immunodeficiency 32 HP:0002721
4 osteomyelitis 32 HP:0002754
5 recurrent pneumonia 32 HP:0006532
6 cellulitis 32 HP:0100658
7 liver abscess 32 HP:0100523
8 lymphadenopathy 32 HP:0002716
9 recurrent bacterial skin infections 32 HP:0005406
10 granulomatosis 32 HP:0002955
11 recurrent aspergillus infections 32 HP:0002724
12 rectal abscess 32 HP:0005224
13 decreased activity of nadph oxidase 32 HP:0003206
14 lymphadenitis 32 HP:0002840
15 eczematoid dermatitis 32 HP:0000976
16 recurrent staphylococcus aureus infections 32 HP:0002726
17 discoid lupus rash 32 HP:0007417
18 absence of bactericidal oxidative respiratory burst in phagocytes 32 HP:0002723
19 recurrent e. coli infections 32 HP:0002740
20 recurrent serratia marcescens infections 32 HP:0002741
21 recurrent klebsiella infections 32 HP:0002742
22 recurrent burkholderia cepacia infections 32 HP:0002842
23 negative nitroblue tetrazolium reduction test 32 HP:0003203

UMLS symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:


glare - eye symptom

GenomeRNAi Phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.36 TNFRSF8
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.36 DECR1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.36 DECR1 TGIF1 TNFRSF8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.36 DECR1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.36 TNFRSF8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.36 DECR1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.36 TNFRSF8
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.36 TNFRSF8
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.36 TNFRSF8

MGI Mouse Phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 CYBA CYBB EHMT2 NCF1 NCF2 PMM2
2 hematopoietic system MP:0005397 9.91 CYBA CYBB EHMT2 NCF1 NCF2 PMM2
3 homeostasis/metabolism MP:0005376 9.85 CTDSPL CYBA CYBB DECR1 NCF1 NCF2
4 immune system MP:0005387 9.65 CYBA CYBB EHMT2 NCF1 NCF2 PMM2
5 mortality/aging MP:0010768 9.28 CYBB DZIP1L EHMT2 NCF1 NCF2 PMM2

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

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

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

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

# Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 2 29 NCF2

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

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

41
Neutrophil, Skin, Testes, Liver, Bone, Eye

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

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

(show all 41)
# Title Authors Year
1
Sensitive Surface Enhanced Raman Scattering-Based Detection of a BIGH3 Point Mutation Associated with Avellino Corneal Dystrophy. ( 27934116 )
2016
2
Individual phenotypic variances in a family with Avellino corneal dystrophy. ( 23837658 )
2013
3
Sands of sahara after LASIK in avellino corneal dystrophy. ( 22606493 )
2012
4
TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy. ( 22553661 )
2011
5
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
6
An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree. ( 22194646 )
2011
7
Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population. ( 20455845 )
2010
8
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. ( 20202685 )
2010
9
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
10
Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature. ( 20724852 )
2010
11
Femtosecond-assisted lamellar keratoplasty in atypical Avellino corneal dystrophy of Indian origin. ( 19657278 )
2009
12
Heterozygous Avellino corneal dystrophy 9 years after photorefractive keratectomy: natural or laser-induced accelerated course? ( 19411970 )
2009
13
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. ( 19822856 )
2009
14
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. ( 19145249 )
2009
15
Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy. ( 19622345 )
2009
16
Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy. ( 18465714 )
2008
17
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees. ( 18290950 )
2008
18
Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK. ( 18269147 )
2008
19
Avellino corneal dystrophy worsening after laser in situ keratomileusis: further clinicopathologic observations and proposed pathogenesis. ( 18243154 )
2008
20
Excimer laser exacerbation of Avellino corneal dystrophy. ( 17189809 )
2007
21
Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment. ( 17893542 )
2007
22
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. ( 17096061 )
2007
23
Preserved peripheral corneal clarity after surgical trauma in patients with Avellino corneal dystrophy. ( 16670497 )
2006
24
Exacerbation of Avellino corneal dystrophy after LASIK in North America. ( 16670492 )
2006
25
Avellino corneal dystrophy exacerbated after LASIK: scanning electron microscopic findings. ( 16633031 )
2006
26
Effects of corneal neovascularization on the manifestations of Avellino corneal dystrophy (granular corneal dystrophy type II). ( 17102666 )
2006
27
[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]. ( 16380889 )
2005
28
Avellino corneal dystrophy after LASIK. ( 15019320 )
2004
29
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman. ( 15059726 )
2004
30
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. ( 14767644 )
2004
31
Association of keratoconus and Avellino corneal dystrophy. ( 12598463 )
2003
32
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families. ( 12812879 )
2003
33
Exacerbation of Avellino corneal dystrophy after laser in situ keratomileusis. ( 11862101 )
2002
34
Alteration of the ocular surface with recurrence of granular/avellino corneal dystrophy after phototherapeutic keratectomy: report of five cases and literature review. ( 11297503 )
2001
35
Granular-lattice (Avellino) corneal dystrophy. ( 9838259 )
1999
36
Granular-lattice (Avellino) corneal dystrophy in Japanese patients. ( 9395872 )
1997
37
Combined granular-lattice ('Avellino') corneal dystrophy. ( 9440163 )
1997
38
Combined granular lattice dystrophy (Avellino corneal dystrophy) ( 8695579 )
1996
39
Avellino corneal dystrophy. ( 8129670 )
1994
40
Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. ( 8240112 )
1993
41
Avellino corneal dystrophy. Clinical manifestations and natural history. ( 1454323 )
1992

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

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

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 NCF2 p.Gly78Glu VAR_008904 rs137854519
2 NCF2 p.Arg77Gln VAR_017388 rs119103275
3 NCF2 p.Ala128Val VAR_017389 rs119103274
4 NCF2 p.Asn42Ser VAR_065002 rs137854514
5 NCF2 p.Gly44Cys VAR_065003 rs137854510
6 NCF2 p.Gly44Arg VAR_065004 rs137854510
7 NCF2 p.Asp93Glu VAR_065007 rs137854507
8 NCF2 p.Arg102Pro VAR_065009 rs137854515
9 NCF2 p.Asp108Val VAR_065010 rs137854509
10 NCF2 p.Trp137Arg VAR_065011 rs137854516
11 NCF2 p.Ala140Asp VAR_065012 rs137854520
12 NCF2 p.Gln169Glu VAR_065013 rs137854517
13 NCF2 p.Arg184Pro VAR_065014 rs137854518
14 NCF2 p.Ala202Val VAR_065016 rs137854508

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 NCF2 NM_000433.3(NCF2): c.399_400dupGA (p.Lys134Argfs) duplication Pathogenic rs796065030 GRCh37 Chromosome 1, 183543723: 183543724
2 NCF2 NM_000433.3(NCF2): c.399_400dupGA (p.Lys134Argfs) duplication Pathogenic rs796065030 GRCh38 Chromosome 1, 183574588: 183574589
3 NCF2 NM_000433.3(NCF2): c.479A> T (p.Asp160Val) single nucleotide variant no interpretation for the single variant rs267606912 GRCh37 Chromosome 1, 183543644: 183543644
4 NCF2 NM_000433.3(NCF2): c.479A> T (p.Asp160Val) single nucleotide variant no interpretation for the single variant rs267606912 GRCh38 Chromosome 1, 183574509: 183574509
5 NCF2 NM_000433.3(NCF2): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs374402066 GRCh37 Chromosome 1, 183546796: 183546796
6 NCF2 NM_000433.3(NCF2): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs374402066 GRCh38 Chromosome 1, 183577661: 183577661
7 NCF2 NM_000433.3(NCF2): c.1171_1175delAAGCT (p.Lys391Glufs) deletion Pathogenic rs796065031 GRCh37 Chromosome 1, 183532572: 183532576
8 NCF2 NM_000433.3(NCF2): c.1171_1175delAAGCT (p.Lys391Glufs) deletion Pathogenic rs796065031 GRCh38 Chromosome 1, 183563437: 183563441
9 NCF2 NM_000433.3(NCF2): c.366+1G> A single nucleotide variant Pathogenic rs796065032 GRCh37 Chromosome 1, 183546733: 183546733
10 NCF2 NM_000433.3(NCF2): c.366+1G> A single nucleotide variant Pathogenic rs796065032 GRCh38 Chromosome 1, 183577598: 183577598
11 NCF2 NM_000433.3(NCF2): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs119103276 GRCh37 Chromosome 1, 183546802: 183546802
12 NCF2 NM_000433.3(NCF2): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs119103276 GRCh38 Chromosome 1, 183577667: 183577667
13 NCF2 NM_000433.3(NCF2): c.55_63delAAGAAGGAC (p.Lys19_Asp21del) deletion Pathogenic rs796065033 GRCh37 Chromosome 1, 183559402: 183559410
14 NCF2 NM_000433.3(NCF2): c.55_63delAAGAAGGAC (p.Lys19_Asp21del) deletion Pathogenic rs796065033 GRCh38 Chromosome 1, 183590267: 183590275
15 NCF2 NM_000433.3(NCF2): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs119103274 GRCh37 Chromosome 1, 183543740: 183543740
16 NCF2 NM_000433.3(NCF2): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs119103274 GRCh38 Chromosome 1, 183574605: 183574605
17 NCF2 NM_000433.3(NCF2): c.230G> A (p.Arg77Gln) single nucleotide variant Pathogenic rs119103275 GRCh37 Chromosome 1, 183556057: 183556057
18 NCF2 NM_000433.3(NCF2): c.230G> A (p.Arg77Gln) single nucleotide variant Pathogenic rs119103275 GRCh38 Chromosome 1, 183586922: 183586922
19 NCF2 NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs13306575 GRCh37 Chromosome 1, 183532437: 183532437
20 NCF2 NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs13306575 GRCh38 Chromosome 1, 183563302: 183563302
21 TGFBI NM_000358.2(TGFBI): c.371G> A (p.Arg124His) single nucleotide variant Pathogenic rs121909211 GRCh37 Chromosome 5, 135382096: 135382096
22 TGFBI NM_000358.2(TGFBI): c.371G> A (p.Arg124His) single nucleotide variant Pathogenic rs121909211 GRCh38 Chromosome 5, 136046407: 136046407
23 NCF2 NM_000433.3(NCF2): c.481A> G (p.Lys161Glu) single nucleotide variant no interpretation for the single variant rs137878529 GRCh37 Chromosome 1, 183543642: 183543642
24 NCF2 NM_000433.3(NCF2): c.481A> G (p.Lys161Glu) single nucleotide variant no interpretation for the single variant rs137878529 GRCh38 Chromosome 1, 183574507: 183574507
25 NCF2 NM_000433.3(NCF2): c.125A> G (p.Asn42Ser) single nucleotide variant not provided rs137854514 GRCh37 Chromosome 1, 183559340: 183559340
26 NCF2 NM_000433.3(NCF2): c.125A> G (p.Asn42Ser) single nucleotide variant not provided rs137854514 GRCh38 Chromosome 1, 183590205: 183590205
27 NCF2 NM_000433.3(NCF2): c.130G> C (p.Gly44Arg) single nucleotide variant not provided rs137854510 GRCh37 Chromosome 1, 183559335: 183559335
28 NCF2 NM_000433.3(NCF2): c.130G> C (p.Gly44Arg) single nucleotide variant not provided rs137854510 GRCh38 Chromosome 1, 183590200: 183590200
29 NCF2 NM_000433.3(NCF2): c.130G> T (p.Gly44Cys) single nucleotide variant Uncertain significance rs137854510 GRCh37 Chromosome 1, 183559335: 183559335
30 NCF2 NM_000433.3(NCF2): c.130G> T (p.Gly44Cys) single nucleotide variant Uncertain significance rs137854510 GRCh38 Chromosome 1, 183590200: 183590200
31 NCF2 NM_000433.3(NCF2): c.233G> A (p.Gly78Glu) single nucleotide variant not provided rs137854519 GRCh37 Chromosome 1, 183556054: 183556054
32 NCF2 NM_000433.3(NCF2): c.233G> A (p.Gly78Glu) single nucleotide variant not provided rs137854519 GRCh38 Chromosome 1, 183586919: 183586919
33 NCF2 NM_000433.3(NCF2): c.279C> G (p.Asp93Glu) single nucleotide variant not provided rs137854507 GRCh37 Chromosome 1, 183546821: 183546821
34 NCF2 NM_000433.3(NCF2): c.279C> G (p.Asp93Glu) single nucleotide variant not provided rs137854507 GRCh38 Chromosome 1, 183577686: 183577686
35 NCF2 NM_000433.3(NCF2): c.305G> C (p.Arg102Pro) single nucleotide variant not provided rs137854515 GRCh37 Chromosome 1, 183546795: 183546795
36 NCF2 NM_000433.3(NCF2): c.305G> C (p.Arg102Pro) single nucleotide variant not provided rs137854515 GRCh38 Chromosome 1, 183577660: 183577660
37 NCF2 NM_000433.3(NCF2): c.323A> T (p.Asp108Val) single nucleotide variant not provided rs137854509 GRCh37 Chromosome 1, 183546777: 183546777
38 NCF2 NM_000433.3(NCF2): c.323A> T (p.Asp108Val) single nucleotide variant not provided rs137854509 GRCh38 Chromosome 1, 183577642: 183577642
39 NCF2 NM_000433.3(NCF2): c.409T> A (p.Trp137Arg) single nucleotide variant not provided rs137854516 GRCh37 Chromosome 1, 183543714: 183543714
40 NCF2 NM_000433.3(NCF2): c.409T> A (p.Trp137Arg) single nucleotide variant not provided rs137854516 GRCh38 Chromosome 1, 183574579: 183574579
41 NCF2 NM_000433.3(NCF2): c.419C> A (p.Ala140Asp) single nucleotide variant not provided rs137854520 GRCh37 Chromosome 1, 183543704: 183543704
42 NCF2 NM_000433.3(NCF2): c.419C> A (p.Ala140Asp) single nucleotide variant not provided rs137854520 GRCh38 Chromosome 1, 183574569: 183574569
43 NCF2 NM_000433.3(NCF2): c.505C> G (p.Gln169Glu) single nucleotide variant not provided rs137854517 GRCh37 Chromosome 1, 183542424: 183542424
44 NCF2 NM_000433.3(NCF2): c.505C> G (p.Gln169Glu) single nucleotide variant not provided rs137854517 GRCh38 Chromosome 1, 183573289: 183573289
45 NCF2 NM_000433.3(NCF2): c.551G> C (p.Arg184Pro) single nucleotide variant not provided rs137854518 GRCh37 Chromosome 1, 183542378: 183542378
46 NCF2 NM_000433.3(NCF2): c.551G> C (p.Arg184Pro) single nucleotide variant not provided rs137854518 GRCh38 Chromosome 1, 183573243: 183573243
47 NCF2 NM_000433.3(NCF2): c.605C> T (p.Ala202Val) single nucleotide variant Likely pathogenic rs137854508 GRCh37 Chromosome 1, 183542324: 183542324
48 NCF2 NM_000433.3(NCF2): c.605C> T (p.Ala202Val) single nucleotide variant Likely pathogenic rs137854508 GRCh38 Chromosome 1, 183573189: 183573189
49 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh37 Chromosome 1, 183542323: 183542323
50 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh38 Chromosome 1, 183573188: 183573188

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

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

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

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 CYBA CYBB EHMT2 NCF1 NCF2
2
Show member pathways
12.39 CYBA CYBB NCF1 NCF2
3
Show member pathways
12.23 CYBA CYBB NCF1 NCF2
4
Show member pathways
12.2 CYBA CYBB NCF1 NCF2
5
Show member pathways
12.15 CYBA CYBB NCF1 NCF2
6
Show member pathways
12.08 CYBA CYBB NCF1 NCF2
7
Show member pathways
11.98 CYBA CYBB NCF1 NCF2
8
Show member pathways
11.96 CYBA CYBB NCF1 NCF2
9 11.85 CYBA CYBB NCF1 NCF2
10 11.84 CYBA NCF1 NCF2
11 11.78 CYBA NCF1 NCF2
12 11.65 CYBA CYBB NCF1 NCF2
13
Show member pathways
11.42 CYBA CYBB NCF1 NCF2
14 11 CYBA CYBB NCF1 NCF2
15
Show member pathways
11 CYBA CYBB NCF1 NCF2
16 10.04 CYBA CYBB NCF1 NCF2

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

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.46 CYBA CYBB NCF1 PMM2
2 phagolysosome GO:0032010 8.96 NCF1 NCF2
3 NADPH oxidase complex GO:0043020 8.92 CYBA CYBB NCF1 NCF2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.89 CYBA CYBB DECR1 NCF1 NCF2
2 innate immune response GO:0045087 9.83 CYBA CYBB NCF1 NCF2 PRDM1
3 electron transport chain GO:0022900 9.62 CYBA CYBB NCF1 NCF2
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.56 CYBA CYBB NCF1 NCF2
5 cellular response to cadmium ion GO:0071276 9.52 CYBB NCF1
6 germ cell development GO:0007281 9.51 EHMT2 PRDM1
7 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.48 CYBB TNFRSF8
8 hydrogen peroxide biosynthetic process GO:0050665 9.46 CYBA CYBB
9 superoxide metabolic process GO:0006801 9.46 CYBA CYBB NCF1 NCF2
10 cellular response to L-glutamine GO:1904845 9.4 CYBA CYBB
11 response to aldosterone GO:1904044 9.37 CYBA CYBB
12 respiratory burst GO:0045730 9.26 CYBA CYBB NCF1 NCF2
13 superoxide anion generation GO:0042554 8.92 CYBA CYBB NCF1 NCF2

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

# Name GO ID Score Top Affiliating Genes
1 promoter-specific chromatin binding GO:1990841 9.32 EHMT2 PRDM1
2 electron transfer activity GO:0009055 9.26 CYBA CYBB NCF1 NCF2
3 superoxide-generating NADPH oxidase activator activity GO:0016176 9.16 NCF1 NCF2
4 superoxide-generating NADPH oxidase activity GO:0016175 8.92 CYBA CYBB NCF1 NCF2
5 protein binding GO:0005515 10.03 ALG3 CTDSPL CYBA CYBB DZIP1L EHMT2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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