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Elsahy-waters syndrome
Elsahy-waters syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
ELOVL4-RELATED MACULOPATHY
MONDO:0700227
ELOVL4
Unknown
11138005
11726641
15028284
15557430
15749821
ClinGen
,
GWAS catalog
Fatty acid elongation
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
+1 more
Elsahy-Waters syndrome
CDH11
Causal
29271567
28988429
ClinGen
Adherens junctions interactions
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
2
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Branchioskeletogenital syndrome
1 shared gene
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Related via 1 shared gene including CDH11.
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1 shared gene
ELOVL4
Related via 1 shared gene including ELOVL4.
Erythrokeratodermia with ataxia
1 shared gene
ELOVL4
Related via 1 shared gene including ELOVL4.
Teebi syndrome
1 shared gene
CDH11
Related via 1 shared gene including CDH11.
Hereditary corneal dystrophy
1 shared gene
ELOVL4
Related via 1 shared gene including ELOVL4.
1
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