Chronic Granulomatous Disease Explore Disorder's Alias
An Autosomal recessive, X-linked dominant mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal recessive, X-linked dominant mode(s) within the Immune disorders category
Reported Pathogenic variants
| 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 | ||||||||
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Clinical Symptoms & Disabilities