Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Hereditary macular coloboma |
NMNAT1 |
disease |
C1852767 |
Biomarker |
0.4 |
disgenet |
Hereditary macular coloboma |
FZD5 |
disease |
C1852767 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Hereditary macular coloboma |
SALL2 |
disease |
C1852767 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Hereditary macular coloboma |
ABCB6 |
disease |
C1852767 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Hereditary macular coloboma |
PAX6 |
disease |
C1852767 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Hereditary macular coloboma |
CLDN19 |
disease |
C1852767 |
Biomarker |
0.1 |
disgenet |
Hereditary macular coloboma |
PRPS1 |
disease |
C1852767 |
Biomarker |
0.1 |
disgenet |
Hereditary macular coloboma |
NOD2 |
disease |
C1852767 |
GeneticVariation |
0.01 |
disgenet |
Hereditary macular coloboma |
FZD4 |
disease |
C1852767 |
GeneticVariation |
0.01 |
disgenet |
Hereditary macular coloboma |
LCA5 |
disease |
C1852767 |
GeneticVariation |
0.01 |
disgenet |
Hereditary macular coloboma |
DHX38 |
disease |
C1852767 |
GeneticVariation |
0.01 |
disgenet |
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