Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Dystrophies, Oculopharyngeal Muscular |
PABPN1 |
disease |
C0270952 |
CausalMutation |
0.9 |
orphanet , disgenet |
Dystrophies, Oculopharyngeal Muscular |
PABPN1 |
disease |
C0270952 |
AlteredExpression |
0.9 |
orphanet , disgenet |
Dystrophies, Oculopharyngeal Muscular |
PABPN1 |
disease |
C0270952 |
GeneticVariation |
0.9 |
orphanet , disgenet |
Dystrophies, Oculopharyngeal Muscular |
PABPN1 |
disease |
C0270952 |
Biomarker |
0.9 |
orphanet , disgenet |
Dystrophies, Oculopharyngeal Muscular |
NUTM2B-AS1 |
disease |
C0270952 |
Biomarker |
0.3 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
LRP12 |
disease |
C0270952 |
Biomarker |
0.3 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
BCL2L2-PABPN1 |
disease |
C0270952 |
GeneticVariation |
0.1 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
BCL2L2-PABPN1 |
disease |
C0270952 |
CausalMutation |
0.1 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
PABPC1P2 |
disease |
C0270952 |
Biomarker |
0.1 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
PABPC1P2 |
disease |
C0270952 |
GeneticVariation |
0.1 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
GCG |
disease |
C0270952 |
Biomarker |
0.1 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
GCG |
disease |
C0270952 |
GeneticVariation |
0.1 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
PABPC1P2 |
disease |
C0270952 |
AlteredExpression |
0.1 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
NRL |
disease |
C0270952 |
GeneticVariation |
0.02 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
SYNM |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
BCL2 |
disease |
C0270952 |
AlteredExpression |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
DNAJA1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
PAX7 |
disease |
C0270952 |
AlteredExpression |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
PRKAA2 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
HNRNPA1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
HNRNPA2B1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
SIRT2 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
IL6 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
GCA |
disease |
C0270952 |
GeneticVariation |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
LTBP3 |
disease |
C0270952 |
GeneticVariation |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
SACS |
disease |
C0270952 |
AlteredExpression |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
TGM2 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
PABPC1 |
disease |
C0270952 |
GeneticVariation |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
MSTN |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
TNNT3 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
PRKAB1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
OPTN |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
PRKAA1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
FKBP1A |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
MLF1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
CTNNB1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
SOD1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
DNAJB6 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
SIRT1 |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
Dystrophies, Oculopharyngeal Muscular |
TARDBP |
disease |
C0270952 |
Biomarker |
0.01 |
disgenet |
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