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Olmsted syndrome
Olmsted syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
OLMSTED SYNDROME 1
614594
C5542829
MONDO:0100296
OMIM:614594
TRPV3
Causal
22405088
CTD
,
ClinVar
,
Disgenet
,
GenCC
,
HPO
Inflammatory mediator regulation of TRP channels
TRP channels
OLMSTED SYNDROME 2
619208
C5543096
MONDO:0030961
PERP
Causal
15797384
30321533
31361044
34265120
ClinVar
,
Disgenet
,
HPO
,
Orphanet
p53 signaling pathway
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
Formation of the cornified envelope
All
3
Causal
2
Unknown
1
Select all
Clear
ClinVar
2
Orphanet
1
Disgenet
2
CTD
1
HPO
2
GWAS catalog
0
GenCC
1
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Olmsted syndrome.
5
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Congenital palmoplantar and perioral keratoderma of olmsted
2 shared genes
PERP, TRPV3
Related via 2 shared genes including PERP, TRPV3.
Genetic infertility
1 shared gene
SPATA22
Related via 1 shared gene including SPATA22.
Canavan disease
1 shared gene
SPATA22
Related via 1 shared gene including SPATA22.
Greither disease
1 shared gene
PERP
Related via 1 shared gene including PERP.
Infertility
1 shared gene
SPATA22
Related via 1 shared gene including SPATA22.
1
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