Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Hypotonia-Cystinuria Syndrome |
PREPL |
disease |
C1848030 |
ChromosomalRearrangement |
0.68 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
PREPL |
disease |
C1848030 |
Biomarker |
0.68 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
PREPL |
disease |
C1848030 |
GeneticVariation |
0.68 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
SLC3A1 |
disease |
C1848030 |
PosttranslationalModification |
0.57 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
SLC3A1 |
disease |
C1848030 |
GeneticVariation |
0.57 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
SLC3A1 |
disease |
C1848030 |
ChromosomalRearrangement |
0.57 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
SLC3A1 |
disease |
C1848030 |
Biomarker |
0.57 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
CAMKMT |
disease |
C1848030 |
GeneticVariation |
0.52 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
CAMKMT |
disease |
C1848030 |
Biomarker |
0.52 |
orphanet , disgenet |
Hypotonia-Cystinuria Syndrome |
PPM1B |
disease |
C1848030 |
GeneticVariation |
0.32 |
disgenet |
Hypotonia-Cystinuria Syndrome |
PPM1B |
disease |
C1848030 |
Biomarker |
0.32 |
disgenet |
Hypotonia-Cystinuria Syndrome |
CYCS |
disease |
C1848030 |
GeneticVariation |
0.01 |
disgenet |
Hypotonia-Cystinuria Syndrome |
HLCS |
disease |
C1848030 |
GeneticVariation |
0.01 |
disgenet |
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