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holoprosencephaly 3
holoprosencephaly 3
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Holoprosencephaly 3
SHH
Causal
11479728
15942952
17001669
16282375
10556296
9302262
15221788
15942953
15107988
19603532
8896572
10441331
ClinGen
Hedgehog signaling pathway
Axon guidance
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Gastric cancer
Hedgehog ligand biogenesis
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
Release of Hh-Np from the secreting cell
Ligand-receptor interactions
Activation of SMO
HHAT G278V abrogates palmitoylation of Hh-Np
+9 more
All
1
Causal
1
Unknown
0
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
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Preaxial polydactyly with upper back hypertrichosis
1 shared gene
SHH
Related via 1 shared gene including SHH.
Skeletal system disorder
1 shared gene
SHH
Related via 1 shared gene including SHH.
Triphalangeal thumb-polysyndactyly syndrome
1 shared gene
SHH
Related via 1 shared gene including SHH.
Partial agenesis of corpus callosum
1 shared gene
SHH
Related via 1 shared gene including SHH.
Skeletal system disease
1 shared gene
SHH
Related via 1 shared gene including SHH.
1
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