Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Leukodystrophies, Metachromatic |
ARSA |
disease |
C0023522 |
Biomarker |
1 |
orphanet , disgenet |
Leukodystrophies, Metachromatic |
ARSA |
disease |
C0023522 |
GeneticVariation |
1 |
orphanet , disgenet |
Leukodystrophies, Metachromatic |
ARSA |
disease |
C0023522 |
AlteredExpression |
1 |
orphanet , disgenet |
Leukodystrophies, Metachromatic |
ARSA |
disease |
C0023522 |
CausalMutation |
1 |
orphanet , disgenet |
Leukodystrophies, Metachromatic |
PSAP |
disease |
C0023522 |
AlteredExpression |
0.3 |
orphanet , disgenet |
Leukodystrophies, Metachromatic |
PSAP |
disease |
C0023522 |
Biomarker |
0.3 |
orphanet , disgenet |
Leukodystrophies, Metachromatic |
PSAP |
disease |
C0023522 |
GeneticVariation |
0.3 |
orphanet , disgenet |
Leukodystrophies, Metachromatic |
ARSB |
disease |
C0023522 |
GeneticVariation |
0.1 |
disgenet |
Leukodystrophies, Metachromatic |
ARSB |
disease |
C0023522 |
CausalMutation |
0.1 |
disgenet |
Leukodystrophies, Metachromatic |
GLB1 |
disease |
C0023522 |
AlteredExpression |
0.02 |
disgenet |
Leukodystrophies, Metachromatic |
GLB1 |
disease |
C0023522 |
Biomarker |
0.02 |
disgenet |
Leukodystrophies, Metachromatic |
SUMF1 |
disease |
C0023522 |
Biomarker |
0.02 |
disgenet |
Leukodystrophies, Metachromatic |
SUMF1 |
disease |
C0023522 |
AlteredExpression |
0.02 |
disgenet |
Leukodystrophies, Metachromatic |
SLC6A3 |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
ACTB |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
IDS |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
DEFB4B |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
DEGS1 |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
SCLT1 |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
NPC1 |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
GALC |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
PSMA7 |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
FUT1 |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
SLC6A4 |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
LRP1 |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
DEFB4A |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
SMPD1 |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
APOE |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
PTPRH |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
HOXB4 |
disease |
C0023522 |
AlteredExpression |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
COX8A |
disease |
C0023522 |
GeneticVariation |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
ELK4 |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
CD24 |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
ADA |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
Leukodystrophies, Metachromatic |
POTEF |
disease |
C0023522 |
Biomarker |
0.01 |
disgenet |
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