GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Chronic Granulomatous Disease      Explore Disorder's Alias
An Autosomal recessive, X-linked dominant mode(s) within the Immune disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 CYBB/1536 cytochrome b-245 beta chain Xp11.4 ChrX, NC_000023.11
(37780059..37813461)
33403 nt 14 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 NCF4/4689 neutrophil cytosolic factor 4 22q12.3 Chr22, NC_000022.11
(36861006..36878015)
17010 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 NCF2/4688 neutrophil cytosolic factor 2 1q25.3 Chr1, NC_000001.11
(183555562..183601849, complement)
46288 nt 20 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development