Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Anophthalmos with limb anomalies |
SMOC1 |
disease |
C0599973 |
CausalMutation |
0.99 |
orphanet , disgenet |
Anophthalmos with limb anomalies |
SMOC1 |
disease |
C0599973 |
GeneticVariation |
0.99 |
orphanet , disgenet |
Anophthalmos with limb anomalies |
SMOC1 |
disease |
C0599973 |
GermlineCausalMutation |
0.99 |
orphanet , disgenet |
Anophthalmos with limb anomalies |
SMOC1 |
disease |
C0599973 |
Biomarker |
0.99 |
orphanet , disgenet |
Anophthalmos with limb anomalies |
FNBP4 |
disease |
C0599973 |
Biomarker |
0.31 |
disgenet |
Anophthalmos with limb anomalies |
FNBP4 |
disease |
C0599973 |
GeneticVariation |
0.31 |
disgenet |
Anophthalmos with limb anomalies |
PAX3 |
disease |
C0599973 |
GermlineCausalMutation |
0.3 |
disgenet |
Anophthalmos with limb anomalies |
FLG |
disease |
C0599973 |
GeneticVariation |
0.01 |
disgenet |
Anophthalmos with limb anomalies |
HMX1 |
disease |
C0599973 |
GeneticVariation |
0.01 |
disgenet |
Anophthalmos with limb anomalies |
CD207 |
disease |
C0599973 |
Biomarker |
0.01 |
disgenet |
Anophthalmos with limb anomalies |
CD68 |
disease |
C0599973 |
Biomarker |
0.01 |
disgenet |
Anophthalmos with limb anomalies |
SPARC |
disease |
C0599973 |
GeneticVariation |
0.01 |
disgenet |
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