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Deafness enamel hypoplasia nail defects
Deafness enamel hypoplasia nail defects
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
DEAFNESS ENAMEL HYPOPLASIA NAIL DEFECTS
C1856186
MESH:C535994
PEX1
Unknown
—
CTD
,
Disgenet
Peroxisome
Peroxisomal protein import
PEX6
Unknown
—
CTD
,
Disgenet
Peroxisome
Peroxisomal protein import
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
2
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Deafness enamel hypoplasia nail defects.
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View disease cluster →
Deafness-enamel hypoplasia-nail defects syndrome
2 shared genes
PEX6, PEX1
Related via 2 shared genes including PEX6, PEX1.
Heimler syndrome
2 shared genes
PEX6, PEX1
Related via 2 shared genes including PEX6, PEX1.
Spinocerebellar ataxia blindness deafness syndrome
1 shared gene
PEX6
Related via 1 shared gene including PEX6.
peroxisome biogenesis disorder due to PEX1 defect
1 shared gene
PEX1
Related via 1 shared gene including PEX1.
Central nervous system demyelinating disease
1 shared gene
PEX6
Related via 1 shared gene including PEX6.
1
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