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Autosomal recessive spinocerebellar ataxia 2
Autosomal recessive spinocerebellar ataxia 2
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Subtype of:
Autosomal recessive ataxia
·
Spinocerebellar ataxia
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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
Autosomal recessive spinocerebellar ataxia 2
MONDO_0008943
PMPCA
Causal
25808372
Open Targets
Processing of SMDT1
Spinocerebellar ataxia, autosomal recessive 2
MONDO_0008943
PMPCA
Unknown
30617178
26657514
25808372
27148589
Open Targets
Processing of SMDT1
All
1
Causal
1
Unknown
1
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Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
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Related via 1 shared gene including PMPCA.
Spinocerebellar ataxia, autosomal recessive 2 ar
1 shared gene
PMPCA
Related via 1 shared gene including PMPCA.
Normal pressure hydrocephalus
1 shared gene
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Related via 1 shared gene including PMPCA.
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1 shared gene
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Related via 1 shared gene including PMPCA.
Ptosis
1 shared gene
PMPCA
Related via 1 shared gene including PMPCA.
1
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