Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Spinocerebellar ataxia, autosomal recessive 1 |
SETX |
disease |
C1853761 |
Biomarker |
0.8 |
orphanet , disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
SETX |
disease |
C1853761 |
AlteredExpression |
0.8 |
orphanet , disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
SETX |
disease |
C1853761 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
SETX |
disease |
C1853761 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
SETX |
disease |
C1853761 |
CausalMutation |
0.8 |
orphanet , disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
APTX |
disease |
C1853761 |
Biomarker |
0.4 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
APTX |
disease |
C1853761 |
GeneticVariation |
0.4 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
PIK3R5 |
disease |
C1853761 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
PNKP |
disease |
C1853761 |
GeneticVariation |
0.05 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
PNKP |
disease |
C1853761 |
Biomarker |
0.05 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
FXN |
disease |
C1853761 |
Biomarker |
0.04 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
MORF4 |
disease |
C1853761 |
Biomarker |
0.02 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
AFP |
disease |
C1853761 |
Biomarker |
0.02 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
MORF4 |
disease |
C1853761 |
GeneticVariation |
0.02 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
AFP |
disease |
C1853761 |
AlteredExpression |
0.02 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
DHX16 |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
SPTBN2 |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
DDX19A |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
XRCC1 |
disease |
C1853761 |
Biomarker |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
DDX46 |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
KIF1A |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
TTPA |
disease |
C1853761 |
Biomarker |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
WASF1 |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
ALB |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
SACS |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
XRCC6P5 |
disease |
C1853761 |
Biomarker |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
CANT1 |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
ITPR1 |
disease |
C1853761 |
GeneticVariation |
0.01 |
disgenet |
Spinocerebellar ataxia, autosomal recessive 1 |
POLG |
disease |
C1853761 |
Biomarker |
0.01 |
disgenet |
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