Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Patterson Stevenson syndrome |
LMBR1 |
disease |
C1868114 |
Biomarker |
0.73 |
orphanet , disgenet |
Patterson Stevenson syndrome |
LMBR1 |
disease |
C1868114 |
GermlineCausalMutation |
0.73 |
orphanet , disgenet |
Patterson Stevenson syndrome |
LMBR1 |
disease |
C1868114 |
GeneticVariation |
0.73 |
orphanet , disgenet |
Patterson Stevenson syndrome |
LMBR1 |
disease |
C1868114 |
CausalMutation |
0.73 |
orphanet , disgenet |
Patterson Stevenson syndrome |
SHH |
disease |
C1868114 |
GeneticVariation |
0.51 |
orphanet , disgenet |
Patterson Stevenson syndrome |
SHH |
disease |
C1868114 |
Biomarker |
0.51 |
orphanet , disgenet |
Patterson Stevenson syndrome |
SHH |
disease |
C1868114 |
GermlineCausalMutation |
0.51 |
orphanet , disgenet |
Patterson Stevenson syndrome |
ZRS |
disease |
C1868114 |
AlteredExpression |
0.04 |
disgenet |
Patterson Stevenson syndrome |
ZRS |
disease |
C1868114 |
Biomarker |
0.04 |
disgenet |
Patterson Stevenson syndrome |
ZRS |
disease |
C1868114 |
GeneticVariation |
0.04 |
disgenet |
Patterson Stevenson syndrome |
PDSS1 |
disease |
C1868114 |
GeneticVariation |
0.01 |
disgenet |
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