| Autosomal Recessive Chronic Granulomatous Disease |
C3661525 |
CYBA
|
Causal
Pathogenic evidence from ClinVar
|
2243141 |
ClinVar |
|
CYBB
|
Causal
Pathogenic evidence from ClinVar
|
11122248, 11498749 |
ClinVar |
|
G6PD
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
4125296 |
- |
| Chronic granulomatous disease |
379, C0018203 |
CYBA
|
Causal
Pathogenic evidence from ClinVar
|
2243141, 20167518 |
ClinVar |
|
CYBB
|
Causal
Pathogenic evidence from ClinVar
|
11122248, 11498749, 21278736 |
ClinVar |
|
NCF1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NCF2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NCF4
|
Causal
Pathogenic evidence from ClinVar
|
19692703 |
ClinVar |
|
CYBC1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30361506 |
- |
|
G6PD
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
4125296 |
- |
|
NCF4-AS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19692703 |
- |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative |
C1856255 |
CYBA
|
Causal
Pathogenic evidence from ClinVar
|
1415254, 1763037, 2243141, 7964505, 8168815, 10759707, 10910929, 10914676, 18422995, 19292887, 23910690, 27537055 |
ClinVar |
| Granulomatous Disease, Chronic, X-Linked |
C1844376 |
CYBA
|
Causal
Pathogenic evidence from ClinVar
|
2243141 |
ClinVar |
|
CYBB
|
Causal
Pathogenic evidence from ClinVar
|
1347621, 1710153, 2556453, 7927345, 8101486, 8182143, 8634410, 8916969, 9111587, 9585602, 9667376, 9794433, 9856476, 9888386, 10089913, 10627478, 10914676, 11112388, 11122248, 11162142, 11435314, 11462241, 11498749, 11997083, 12139950, 12589359, 14697745, 15338276, 17293536, 18546332, 18773283, 19483051, 20724480, 20729109, 21190454, 22125116, 22540226, 22924737, 23193493, 23859418, 23910690, 23956436, 24999735, 26453586, 27666509, 27701760, 28168067, 28251166, 29560547, 30633606 |
ClinVar |
|
G6PD
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
4125296 |
- |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I |
C1856251 |
NCF1
|
Causal
Pathogenic evidence from ClinVar
|
10706888, 11133775, 23910690 |
ClinVar |
| GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III |
C3151409 |
NCF1
|
Causal
Pathogenic evidence from ClinVar
|
24446915 |
ClinVar |
|
NCF4
|
Causal
Pathogenic evidence from ClinVar
|
17435756, 19692703, 29969437 |
ClinVar |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II |
C1856245 |
NCF2
|
Causal
Pathogenic evidence from ClinVar
|
8286749, 9070911, 10498624, 10598813, 11112388, 16937026, 18625437, 19624736, 20167518, 23910690, 25937994 |
ClinVar |
|
SMG7
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10498624, 10598813, 18625437, 19624736, 20167518, 25937994 |
- |
