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Toriello-carey syndrome
Toriello-carey syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
TORIELLO-CAREY SYNDROME
3338
MONDO:0009021
DDX3X
Unknown
26235985
28371085
28371085_26235985
GWAS catalog
,
Orphanet
RIG-I-like receptor signaling pathway
Hepatitis B
Viral carcinogenesis
Neutrophil degranulation
+1 more
TORIELLO-LACASSIE-DROSTE SYNDROME
MONDO:0010854
KRAS
Unknown
—
ClinVar
EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Chemokine signaling pathway
FoxO signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Mitophagy - animal
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Longevity regulating pathway
Longevity regulating pathway - multiple species
Cellular senescence
Axon guidance
VEGF signaling pathway
Apelin signaling pathway
Gap junction
Signaling pathways regulating pluripotency of stem cells
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Thermogenesis
Long-term potentiation
Neurotrophin signaling pathway
Cholinergic synapse
Serotonergic synapse
Long-term depression
Regulation of actin cytoskeleton
Insulin signaling pathway
GnRH signaling pathway
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Melanogenesis
Prolactin signaling pathway
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Relaxin signaling pathway
GnRH secretion
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Alcoholism
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Thyroid cancer
Melanoma
Bladder cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis
Activation of RAS in B cells
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
SHC1 events in ERBB4 signaling
Signaling by SCF-KIT
p38MAPK events
GRB2 events in EGFR signaling
SHC1 events in EGFR signaling
Downstream signal transduction
GRB2 events in ERBB2 signaling
Tie2 Signaling
EGFR Transactivation by Gastrin
DAP12 signaling
FCERI mediated MAPK activation
NCAM signaling for neurite out-growth
Ca2+ pathway
VEGFR2 mediated cell proliferation
CD209 (DC-SIGN) signaling
Constitutive Signaling by EGFRvIII
SHC-mediated cascade:FGFR1
FRS-mediated FGFR1 signaling
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
SHC-mediated cascade:FGFR3
FRS-mediated FGFR3 signaling
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
Signaling by FGFR2 in disease
Signaling by FGFR4 in disease
Signaling by FGFR1 in disease
Regulation of RAS by GAPs
RAF activation
RAF/MAP kinase cascade
MAP2K and MAPK activation
Negative regulation of MAPK pathway
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
RAS signaling downstream of NF1 loss-of-function variants
Paradoxical activation of RAF signaling by kinase inactive BRAF
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
MET activates RAS signaling
Signaling by FGFR3 fusions in cancer
Signaling by FGFR3 point mutants in cancer
RUNX3 regulates p14-ARF
FLT3 Signaling
Constitutive Signaling by Overexpressed ERBB2
Estrogen-stimulated signaling through PRKCZ
RAS GTPase cycle mutants
Signaling downstream of RAS mutants
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 ECD mutants
Signaling by ERBB2 TMD/JMD mutants
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
+134 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
0
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Toriello-carey syndrome.
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Corpus callosum agenesis with facial anomalies and robin sequence
1 shared gene
DDX3X
Related via 1 shared gene including DDX3X.
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1 shared gene
KRAS
Related via 1 shared gene including KRAS.
Encephalocraniocutaneous lipomatosis
1 shared gene
KRAS
Related via 1 shared gene including KRAS.
Aplasia cutis congenita with epibulbar dermoids
1 shared gene
KRAS
Related via 1 shared gene including KRAS.
Intracranial arteriovenous malformation
1 shared gene
KRAS
Related via 1 shared gene including KRAS.
1
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