Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
RNF216 |
disease |
C1859305 |
CausalMutation |
0.75 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
RNF216 |
disease |
C1859305 |
GeneticVariation |
0.75 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
RNF216 |
disease |
C1859305 |
GermlineCausalMutation |
0.75 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
RNF216 |
disease |
C1859305 |
Biomarker |
0.75 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
PNPLA6 |
disease |
C1859305 |
GermlineCausalMutation |
0.32 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
PNPLA6 |
disease |
C1859305 |
Biomarker |
0.32 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
STUB1 |
disease |
C1859305 |
Biomarker |
0.02 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
GNRH1 |
disease |
C1859305 |
Biomarker |
0.01 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
MUL1 |
disease |
C1859305 |
Biomarker |
0.01 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
OTUD4 |
disease |
C1859305 |
GeneticVariation |
0.01 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
PRKN |
disease |
C1859305 |
Biomarker |
0.01 |
disgenet |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
CBLL2 |
disease |
C1859305 |
Biomarker |
0.01 |
disgenet |
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