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Bartsocas-papas syndrome
Bartsocas-papas syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
BARTSOCAS-PAPAS SYNDROME
1234
RIPK4
Unknown
22197488
22197489
Orphanet
—
BARTSOCAS-PAPAS SYNDROME 1
263650
MONDO:0009901
RIPK4
Causal
15264293
22197488
28940926
33713555
ClinVar
,
GWAS catalog
,
HPO
—
BARTSOCAS-PAPAS SYNDROME 2
619339
C5543445
MONDO:0859154
CHUK
Causal
25691407
ClinGen
,
ClinVar
,
Disgenet
,
GenCC
,
HPO
Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
FoxO signaling pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Adipocytokine signaling pathway
Alcoholic liver disease
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Chagas disease
Toxoplasmosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
Activation of NF-kappaB in B cells
ER-Phagosome pathway
NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
RIP-mediated NFkB activation via ZBP1
AKT phosphorylates targets in the cytosol
Downstream TCR signaling
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
IKBKB deficiency causes SCID
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
IkBA variant leads to EDA-ID
Dectin-1 mediated noncanonical NF-kB signaling
CLEC7A (Dectin-1) signaling
Constitutive Signaling by AKT1 E17K in Cancer
NIK-->noncanonical NF-kB signaling
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
+75 more
All
2
Causal
2
Unknown
1
Select all
Clear
ClinVar
2
Orphanet
1
Disgenet
1
CTD
0
HPO
2
GWAS catalog
1
GenCC
1
ClinGen
1
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Diseases that share the most curated genes with Bartsocas-papas syndrome.
5
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Cocoon syndrome
1 shared gene
CHUK
Related via 1 shared gene including CHUK.
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency
1 shared gene
CHUK
Related via 1 shared gene including CHUK.
Curly hair ankyloblepharon nail dysplasia syndrome
1 shared gene
RIPK4
Related via 1 shared gene including RIPK4.
Congenital skin anomaly
1 shared gene
CHUK
Related via 1 shared gene including CHUK.
Skin abnormalities
1 shared gene
CHUK
Related via 1 shared gene including CHUK.
1
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