Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Neuropathy ataxia and retinitis pigmentosa |
ATP6 |
disease |
C1328349 |
GeneticVariation |
0.7 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
ATP6 |
disease |
C1328349 |
CausalMutation |
0.7 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
ATP6 |
disease |
C1328349 |
Biomarker |
0.7 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
NPTX2 |
disease |
C1328349 |
GeneticVariation |
0.06 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
NPTX2 |
disease |
C1328349 |
Biomarker |
0.06 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
MFN2 |
disease |
C1328349 |
GeneticVariation |
0.01 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
ATP11A |
disease |
C1328349 |
GeneticVariation |
0.01 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
ATP8 |
disease |
C1328349 |
GeneticVariation |
0.01 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
KIF1B |
disease |
C1328349 |
GeneticVariation |
0.01 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
ATM |
disease |
C1328349 |
AlteredExpression |
0.01 |
disgenet |
Neuropathy ataxia and retinitis pigmentosa |
MT-ATP6 |
NA |
C1328349 |
NA |
NA |
orphanet |
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