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Dubowitz syndrome
Dubowitz syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
DUBOWITZ SYNDROME
235
C0175691
MONDO:0009124
LIG4
Unknown
24892279
Disgenet
,
Orphanet
Non-homologous end-joining
2-LTR circle formation
Nonhomologous End-Joining (NHEJ)
NSUN2
Unknown
22577224
ClinGen
,
Disgenet
,
Orphanet
tRNA modification in the nucleus and cytosol
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
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1 shared gene
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Related via 1 shared gene including LIG4.
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1 shared gene
LIG4
Related via 1 shared gene including LIG4.
Omenn syndrome
1 shared gene
LIG4
Related via 1 shared gene including LIG4.
Spondylosis
1 shared gene
LIG4
Related via 1 shared gene including LIG4.
syndromic intellectual disability
1 shared gene
NSUN2
Related via 1 shared gene including NSUN2.
1
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