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Autosomal recessive spinocerebellar ataxia 16
Autosomal recessive spinocerebellar ataxia 16
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Subtype of:
Autosomal recessive ataxia
·
Spinocerebellar ataxia
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(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
autosomal recessive spinocerebellar ataxia 16
MONDO_0013392
STUB1
Causal
34906452
33564152
30381368
35493319
25592071
32713943
24312598
Open Targets
Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum
Downregulation of TGF-beta receptor signaling
Downregulation of ERBB2 signaling
Regulation of RUNX2 expression and activity
Regulation of PTEN stability and activity
Antigen processing: Ubiquitination & Proteasome degradation
+4 more
Autosomal recessive spinocerebellar ataxia type 16
MONDO_0014339
STUB1
Unknown
24113144
24312598
24719489
24742043
25258038
25592071
30381368
32713943
33564152
34906452
35493319
Open Targets
Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum
Downregulation of TGF-beta receptor signaling
Downregulation of ERBB2 signaling
Regulation of RUNX2 expression and activity
Regulation of PTEN stability and activity
Antigen processing: Ubiquitination & Proteasome degradation
+4 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
Related Diseases
Diseases that share the most curated genes with Autosomal recessive spinocerebellar ataxia 16.
2
View disease cluster →
Spinocerebellar ataxia
1 shared gene
STUB1
Related via 1 shared gene including STUB1.
Cerebellar ataxia
1 shared gene
STUB1
Related via 1 shared gene including STUB1.
1
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