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Preaxial polydactyly 2
Preaxial polydactyly 2
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Subtype of:
Polydactyly
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Pathways column key:
KEGG
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Disease terms
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Preaxial polydactyly 2
MONDO_0008270
LMBR1
Unknown
12837695
Open Targets
—
Preaxial polydactyly 2
MONDO_0008270
SHH
Unknown
12837695
Open Targets
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
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
Related Diseases
Diseases that share the most curated genes with Preaxial polydactyly 2.
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Triphalangeal thumb-polysyndactyly syndrome
2 shared genes
LMBR1, SHH
Related via 2 shared genes including LMBR1, SHH.
Laurin-sandrow syndrome
2 shared genes
LMBR1, SHH
Related via 2 shared genes including LMBR1, SHH.
Hypoplasia or aplasia of tibia with polydactyly
2 shared genes
LMBR1, SHH
Related via 2 shared genes including LMBR1, SHH.
Acheiropody
1 shared gene
LMBR1
Related via 1 shared gene including LMBR1.
Patterson stevenson fontaine syndrome
1 shared gene
LMBR1
Related via 1 shared gene including LMBR1.
1
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