Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations |
FBXL3 |
phenotype |
C1853507 |
GeneticVariation |
0.6 |
disgenet |
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations |
FBXL3 |
phenotype |
C1853507 |
Biomarker |
0.6 |
disgenet |
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations |
FBXL3 |
phenotype |
C1853507 |
CausalMutation |
0.6 |
disgenet |
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations |
CLN5 |
phenotype |
C1853507 |
CausalMutation |
0.1 |
disgenet |
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