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Semilobar holoprosencephaly
Semilobar holoprosencephaly
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
SEMILOBAR HOLOPROSENCEPHALY
220386
FGF8
Causal
—
Orphanet
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Regulation of actin cytoskeleton
Pathways in cancer
Chemical carcinogenesis - receptor activation
Melanoma
Breast cancer
Gastric cancer
PI3K Cascade
PIP3 activates AKT signaling
Signaling by activated point mutants of FGFR1
Signaling by activated point mutants of FGFR3
FGFR4 ligand binding and activation
FGFR3b ligand binding and activation
FGFR3c ligand binding and activation
FGFR1c ligand binding and activation
FGFR2c ligand binding and activation
FGFR3 mutant receptor activation
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade: FGFR1
Phospholipase C-mediated cascade; FGFR2
Phospholipase C-mediated cascade; FGFR3
Phospholipase C-mediated cascade; FGFR4
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
PI-3K cascade:FGFR2
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
SHC-mediated cascade:FGFR3
FRS-mediated FGFR3 signaling
PI-3K cascade:FGFR3
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
PI-3K cascade:FGFR4
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
Signaling by FGFR2 in disease
Signaling by FGFR1 in disease
FGFRL1 modulation of FGFR1 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by FGFR3 point mutants in cancer
+47 more
FGFR1
Causal
27363716
Orphanet
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Adherens junction
Signaling pathways regulating pluripotency of stem cells
Thermogenesis
Regulation of actin cytoskeleton
Parathyroid hormone synthesis, secretion and action
Pathways in cancer
Proteoglycans in cancer
Prostate cancer
Melanoma
Breast cancer
Central carbon metabolism in cancer
PI3K Cascade
PIP3 activates AKT signaling
Signaling by FGFR1 amplification mutants
Signaling by activated point mutants of FGFR1
FGFR1b ligand binding and activation
FGFR1c ligand binding and activation
FGFR1c and Klotho ligand binding and activation
Constitutive Signaling by Aberrant PI3K in Cancer
Signal transduction by L1
Phospholipase C-mediated cascade: FGFR1
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
Negative regulation of FGFR1 signaling
Signaling by FGFR1 in disease
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by plasma membrane FGFR1 fusions
+32 more
All
18
Causal
2
Unknown
18
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Semilobar holoprosencephaly.
5
View disease cluster →
Syntelencephaly
15 shared genes
FGF8, CDON, GLI2, SHH, PTCH1, SIX3, GAS1, ZIC2, DLL1, STIL, DISP1, CRIPTO +3 more
Related via 15 shared genes including FGF8, CDON, GLI2.
Septopreoptic holoprosencephaly
15 shared genes
FGF8, CDON, GLI2, SHH, PTCH1, SIX3, GAS1, ZIC2, DLL1, STIL, DISP1, CRIPTO +3 more
Related via 15 shared genes including FGF8, CDON, GLI2.
Microform holoprosencephaly
15 shared genes
FGF8, CDON, GLI2, SHH, PTCH1, SIX3, FGFR1, GAS1, ZIC2, DLL1, DISP1, CRIPTO +3 more
Related via 15 shared genes including FGF8, CDON, GLI2.
Holoprosencephaly
17 shared genes
FGF8, CDON, GLI2, SHH, PTCH1, SIX3, FGFR1, GAS1, ZIC2, DLL1, STIL, STAG2 +5 more
Related via 17 shared genes including FGF8, CDON, GLI2.
Cyclocephaly
3 shared genes
FGF8, GAS1, ZIC2
Related via 3 shared genes including FGF8, GAS1, ZIC2.
1
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