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noonan syndrome with multiple lentigines
noonan syndrome with multiple lentigines
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Noonan syndrome with multiple lentigines
BRAF
Causal
—
ClinGen
EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
FoxO signaling pathway
mTOR signaling pathway
Vascular smooth muscle contraction
Focal adhesion
Natural killer cell mediated cytotoxicity
Long-term potentiation
Neurotrophin signaling pathway
Serotonergic synapse
Long-term depression
Regulation of actin cytoskeleton
Insulin signaling pathway
Progesterone-mediated oocyte maturation
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Alcoholism
Hepatitis C
Hepatitis B
Pathways in cancer
Proteoglycans in cancer
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
Spry regulation of FGF signaling
Frs2-mediated activation
RAF activation
MAP2K and MAPK activation
Negative feedback regulation of MAPK pathway
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
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants
+52 more
PTPN11
Causal
11992261
12058348
12161596
14634749
14961557
14991917
15121796
15389709
15520399
16172598
16358218
16377799
16679933
16733669
17697839
17875892
17927788
19054014
19659470
19768645
19864201
21365175
21677813
21747628
21910226
22822385
23799168
24790373
ClinGen
Ras signaling pathway
Phospholipase D signaling pathway
Efferocytosis
Axon guidance
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Adipocytokine signaling pathway
Insulin resistance
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Herpes simplex virus 1 infection
Proteoglycans in cancer
Chemical carcinogenesis - reactive oxygen species
Renal cell carcinoma
Chronic myeloid leukemia
PD-L1 expression and PD-1 checkpoint pathway in cancer
Interleukin-6 signaling
PI3K Cascade
MAPK3 (ERK1) activation
MAPK1 (ERK2) activation
GPVI-mediated activation cascade
PIP3 activates AKT signaling
Spry regulation of FGF signaling
Signaling by SCF-KIT
GAB1 signalosome
Downstream signal transduction
PECAM1 interactions
Tie2 Signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Costimulation by the CD28 family
CTLA4 inhibitory signaling
PD-1 signaling
Platelet sensitization by LDL
Interleukin-3, Interleukin-5 and GM-CSF signaling
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
PI-3K cascade:FGFR2
FRS-mediated FGFR2 signaling
FRS-mediated FGFR3 signaling
PI-3K cascade:FGFR3
FRS-mediated FGFR4 signaling
PI-3K cascade:FGFR4
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
RET signaling
Interleukin-20 family signaling
MET activates PTPN11
Regulation of RUNX1 Expression and Activity
Interleukin-37 signaling
Interferon alpha/beta signaling
Regulation of IFNA signaling
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
+56 more
RAF1
Causal
—
ClinGen
EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
FoxO signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Cellular senescence
Vascular smooth muscle contraction
Axon guidance
VEGF signaling pathway
Apelin signaling pathway
Focal adhesion
Gap junction
Signaling pathways regulating pluripotency of stem cells
Neutrophil extracellular trap formation
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Long-term potentiation
Neurotrophin signaling pathway
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
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Growth hormone synthesis, secretion and action
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Alcoholism
Salmonella infection
Tuberculosis
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
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
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
Stimuli-sensing channels
Rap1 signalling
GP1b-IX-V activation signalling
CD209 (DC-SIGN) signaling
RAF activation
MAP2K and MAPK activation
Negative feedback regulation of MAPK pathway
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
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants
+93 more
All
5
Causal
3
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
3
Related Diseases
Diseases that share the most curated genes with noonan syndrome with multiple lentigines.
5
View disease cluster →
Leopard syndrome
5 shared genes
BRAF, NRAS, RAF1, PTPN11, MAP2K1
Related via 5 shared genes including BRAF, NRAS, RAF1.
Cardiofaciocutaneous syndrome
5 shared genes
BRAF, NRAS, RAF1, PTPN11, MAP2K1
Related via 5 shared genes including BRAF, NRAS, RAF1.
Costello syndrome
5 shared genes
BRAF, NRAS, RAF1, PTPN11, MAP2K1
Related via 5 shared genes including BRAF, NRAS, RAF1.
Congenital malformation syndromes associated with short stature
2 shared genes
BRAF, PTPN11
Related via 2 shared genes including BRAF, PTPN11.
Hairy cell leukemia
1 shared gene
BRAF
Related via 1 shared gene including BRAF.
1
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