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Combined immunodeficiency, x-linked
Combined immunodeficiency, x-linked
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
COMBINED IMMUNODEFICIENCY, X-LINKED
312863
MONDO:0010730
IL2RG
Causal
—
ClinVar
,
HPO
Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Endocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Measles
Human T-cell leukemia virus 1 infection
Pathways in cancer
Inflammatory bowel disease
Primary immunodeficiency
Interleukin-7 signaling
RAF/MAP kinase cascade
Interleukin-4 and Interleukin-13 signaling
Interleukin-15 signaling
Interleukin-9 signaling
Interleukin-2 signaling
Interleukin-21 signaling
Interleukin receptor SHC signaling
+17 more
SASH3
Unknown
16227612
24309898
33876203
35464398
ClinGen
,
Orphanet
—
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
0
CTD
0
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
1
Related Diseases
Diseases that share the most curated genes with Combined immunodeficiency, x-linked.
5
View disease cluster →
X-linked combined immunodeficiency diseases
2 shared genes
IL2RG, SASH3
Related via 2 shared genes including IL2RG, SASH3.
X-linked severe combined immunodeficiency
1 shared gene
IL2RG
Related via 1 shared gene including IL2RG.
T-B+ severe combined immunodeficiency due to gamma chain deficiency
1 shared gene
IL2RG
Related via 1 shared gene including IL2RG.
Omenn syndrome
1 shared gene
IL2RG
Related via 1 shared gene including IL2RG.
Sezary syndrome
1 shared gene
IL2RG
Related via 1 shared gene including IL2RG.
1
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