Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Aniridia cerebellar ataxia mental deficiency |
ITPR1 |
disease |
C0431401 |
GeneticVariation |
0.78 |
disgenet |
Aniridia cerebellar ataxia mental deficiency |
ITPR1 |
disease |
C0431401 |
Biomarker |
0.78 |
disgenet |
Aniridia cerebellar ataxia mental deficiency |
ITPR1 |
disease |
C0431401 |
CausalMutation |
0.78 |
disgenet |
Aniridia cerebellar ataxia mental deficiency |
ITPR1 |
disease |
C0431401 |
GermlineCausalMutation |
0.78 |
disgenet |
Aniridia cerebellar ataxia mental deficiency |
PAX6 |
disease |
C0431401 |
GermlineCausalMutation |
0.53 |
disgenet |
Aniridia cerebellar ataxia mental deficiency |
PAX6 |
disease |
C0431401 |
GeneticVariation |
0.53 |
disgenet |
Aniridia cerebellar ataxia mental deficiency |
PAX6 |
disease |
C0431401 |
Biomarker |
0.53 |
disgenet |
Aniridia cerebellar ataxia mental deficiency |
ACTA2 |
disease |
C0431401 |
Biomarker |
0.01 |
disgenet |
Aniridia cerebellar ataxia mental deficiency |
HCCS |
disease |
C0431401 |
GeneticVariation |
0.01 |
disgenet |
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