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Tremor-ataxia-central hypomyelination syndrome
Tremor-ataxia-central hypomyelination syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME
447896
C5680067
MONDO:0018656
POLR3A
Unknown
20640464
Disgenet
,
Orphanet
RNA polymerase
Cytosolic DNA-sensing pathway
Cytosolic sensors of pathogen-associated DNA
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter
+3 more
POLR3B
Unknown
—
Disgenet
RNA polymerase
Cytosolic DNA-sensing pathway
Cytosolic sensors of pathogen-associated DNA
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter
+3 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
1
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Tremor-ataxia-central hypomyelination syndrome.
5
View disease cluster →
POLR3B-related disorder
1 shared gene
POLR3B
Related via 1 shared gene including POLR3B.
Wiedemann-rautenstrauch syndrome
1 shared gene
POLR3A
Related via 1 shared gene including POLR3A.
POLR3A-related disorder
1 shared gene
POLR3A
Related via 1 shared gene including POLR3A.
Leukodystrophy
2 shared genes
POLR3B, POLR3A
Related via 2 shared genes including POLR3B, POLR3A.
Hypomyelinating leukodystrophy
2 shared genes
POLR3B, POLR3A
Related via 2 shared genes including POLR3B, POLR3A.
1
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