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Lamb-shaffer syndrome
Lamb-shaffer syndrome
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Show by gene
(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
12P12.1 microdeletion syndrome
313884
C4755260
SOX5
Unknown
22290657
Disgenet
,
Orphanet
—
12p12.5 intragenic deletions associated with intellectual disability
MONDO_0014778
SOX5
Unknown
22290657
36861937
Open Targets
—
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
1
Disgenet
1
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
Related Diseases
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5
View disease cluster →
Vertebral column disorder
1 shared gene
SOX5
Related via 1 shared gene including SOX5.
Hoarding disorder
1 shared gene
SOX5
Related via 1 shared gene including SOX5.
Spondylosis
1 shared gene
SOX5
Related via 1 shared gene including SOX5.
Azoospermia
1 shared gene
SOX5
Related via 1 shared gene including SOX5.
Strabismus
1 shared gene
SOX5
Related via 1 shared gene including SOX5.
1
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