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Immunodeficiency 31b
Immunodeficiency 31b
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Subtype of:
Immunodeficiency
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Show by gene
(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Immunodeficiency 31B
MONDO_0013427
STAT1
Causal
12590259
20841510
23709754
ClinGen
,
Open Targets
Chemokine signaling pathway
Necroptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Prolactin signaling pathway
Thyroid hormone signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Leishmaniasis
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
Pancreatic cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Interleukin-6 signaling
ISG15 antiviral mechanism
Signaling by SCF-KIT
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
Interleukin-4 and Interleukin-13 signaling
Interferon gamma signaling
Regulation of IFNG signaling
Interleukin-20 family signaling
Interleukin-35 Signalling
Interleukin-9 signaling
NOTCH3 Intracellular Domain Regulates Transcription
Interleukin-27 signaling
Interleukin-21 signaling
Interferon alpha/beta signaling
Regulation of IFNA signaling
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
+44 more
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive
MONDO_0013427
STAT1
Unknown
29702748
11452125
21727188
26513235
12590259
23541320
23709754
23534974
28258222
Open Targets
Chemokine signaling pathway
Necroptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Prolactin signaling pathway
Thyroid hormone signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Leishmaniasis
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
Pancreatic cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Interleukin-6 signaling
ISG15 antiviral mechanism
Signaling by SCF-KIT
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
Interleukin-4 and Interleukin-13 signaling
Interferon gamma signaling
Regulation of IFNG signaling
Interleukin-20 family signaling
Interleukin-35 Signalling
Interleukin-9 signaling
NOTCH3 Intracellular Domain Regulates Transcription
Interleukin-27 signaling
Interleukin-21 signaling
Interferon alpha/beta signaling
Regulation of IFNA signaling
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
+44 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
1
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Autoimmune enteropathy and endocrinopathy
1 shared gene
STAT1
Related via 1 shared gene including STAT1.
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 shared gene
STAT1
Related via 1 shared gene including STAT1.
Candidiasis, familial, 7
1 shared gene
STAT1
Related via 1 shared gene including STAT1.
Immunodeficiency 31c, autosomal dominant
1 shared gene
STAT1
Related via 1 shared gene including STAT1.
Polyarticular juvenile idiopathic arthritis
1 shared gene
STAT1
Related via 1 shared gene including STAT1.
1
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