Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Cataract microcornea syndrome |
GJA8 |
disease |
C1861829 |
GermlineCausalMutation |
0.61 |
orphanet , disgenet |
Cataract microcornea syndrome |
GJA8 |
disease |
C1861829 |
Biomarker |
0.61 |
orphanet , disgenet |
Cataract microcornea syndrome |
GJA8 |
disease |
C1861829 |
GeneticVariation |
0.61 |
orphanet , disgenet |
Cataract microcornea syndrome |
CRYBB1 |
disease |
C1861829 |
GeneticVariation |
0.33 |
orphanet , disgenet |
Cataract microcornea syndrome |
CRYBB1 |
disease |
C1861829 |
GermlineCausalMutation |
0.33 |
orphanet , disgenet |
Cataract microcornea syndrome |
ABCA3 |
disease |
C1861829 |
GeneticVariation |
0.31 |
disgenet |
Cataract microcornea syndrome |
CRYAA |
disease |
C1861829 |
GeneticVariation |
0.31 |
orphanet , disgenet |
Cataract microcornea syndrome |
ABCA3 |
disease |
C1861829 |
Biomarker |
0.31 |
disgenet |
Cataract microcornea syndrome |
CRYAA |
disease |
C1861829 |
GermlineCausalMutation |
0.31 |
orphanet , disgenet |
Cataract microcornea syndrome |
CRYGC |
disease |
C1861829 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Cataract microcornea syndrome |
MAF |
disease |
C1861829 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Cataract microcornea syndrome |
CRYGD |
disease |
C1861829 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Cataract microcornea syndrome |
CRYBB2 |
disease |
C1861829 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Cataract microcornea syndrome |
CRYBA4 |
disease |
C1861829 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Cataract microcornea syndrome |
ABCB5 |
disease |
C1861829 |
GeneticVariation |
0.01 |
disgenet |
Cataract microcornea syndrome |
SLC16A12 |
NA |
C1861829 |
NA |
NA |
orphanet |
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