Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Choroidal Dystrophy, Central Areolar |
GUCY2D |
disease |
C1536451 |
GeneticVariation |
0.61 |
orphanet , disgenet |
Choroidal Dystrophy, Central Areolar |
GUCY2D |
disease |
C1536451 |
GermlineCausalMutation |
0.61 |
orphanet , disgenet |
Choroidal Dystrophy, Central Areolar |
GUCY2D |
disease |
C1536451 |
CausalMutation |
0.61 |
orphanet , disgenet |
Choroidal Dystrophy, Central Areolar |
GUCY2D |
disease |
C1536451 |
Biomarker |
0.61 |
orphanet , disgenet |
Choroidal Dystrophy, Central Areolar |
PRPH2 |
disease |
C1536451 |
GeneticVariation |
0.38 |
orphanet , disgenet |
Choroidal Dystrophy, Central Areolar |
PRPH2 |
disease |
C1536451 |
GermlineCausalMutation |
0.38 |
orphanet , disgenet |
Choroidal Dystrophy, Central Areolar |
PRPH2 |
disease |
C1536451 |
Biomarker |
0.38 |
orphanet , disgenet |
Choroidal Dystrophy, Central Areolar |
GUCA1A |
disease |
C1536451 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Choroidal Dystrophy, Central Areolar |
TST |
disease |
C1536451 |
GeneticVariation |
0.05 |
disgenet |
Choroidal Dystrophy, Central Areolar |
PRPH |
disease |
C1536451 |
GeneticVariation |
0.04 |
disgenet |
Choroidal Dystrophy, Central Areolar |
CACD |
disease |
C1536451 |
GeneticVariation |
0.02 |
disgenet |
Choroidal Dystrophy, Central Areolar |
CDHR1 |
disease |
C1536451 |
GeneticVariation |
0.01 |
disgenet |
Choroidal Dystrophy, Central Areolar |
PLXNA2 |
disease |
C1536451 |
Biomarker |
0.01 |
disgenet |
Choroidal Dystrophy, Central Areolar |
TIMP3 |
disease |
C1536451 |
Biomarker |
0.01 |
disgenet |
Choroidal Dystrophy, Central Areolar |
TP53 |
disease |
C1536451 |
Biomarker |
0.01 |
disgenet |
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