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Microform holoprosencephaly
Microform holoprosencephaly
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
MICROFORM HOLOPROSENCEPHALY
280200
C5393309
FGFR1
Causal
27363716
Disgenet
,
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
GLI2
Causal
—
Disgenet
,
Orphanet
Hedgehog signaling pathway
Hippo signaling pathway
Pathways in cancer
Basal cell carcinoma
Hedgehog 'off' state
Hedgehog 'on' state
GLI proteins bind promoters of Hh responsive genes to promote transcription
+4 more
All
16
Causal
2
Unknown
14
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Microform holoprosencephaly.
5
View disease cluster →
Syntelencephaly
14 shared genes
FGF8, CDON, GLI2, SHH, PTCH1, SIX3, GAS1, ZIC2, DLL1, DISP1, CRIPTO, FOXH1 +2 more
Related via 14 shared genes including FGF8, CDON, GLI2.
Septopreoptic holoprosencephaly
14 shared genes
FGF8, CDON, GLI2, SHH, PTCH1, SIX3, GAS1, ZIC2, DLL1, DISP1, CRIPTO, FOXH1 +2 more
Related via 14 shared genes including FGF8, CDON, GLI2.
Semilobar 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
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.
Basal cell nevus syndrome
3 shared genes
GLI2, PTCH1, SUFU
Related via 3 shared genes including GLI2, PTCH1, SUFU.
1
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