Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
EFTUD2 |
disease |
C1864652 |
Biomarker |
0.8 |
disgenet |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
EFTUD2 |
disease |
C1864652 |
AlteredExpression |
0.8 |
disgenet |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
EFTUD2 |
disease |
C1864652 |
GermlineCausalMutation |
0.8 |
disgenet |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
EFTUD2 |
disease |
C1864652 |
GeneticVariation |
0.8 |
disgenet |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
EFTUD2 |
disease |
C1864652 |
CausalMutation |
0.8 |
disgenet |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
HUWE1 |
disease |
C1864652 |
Biomarker |
0.01 |
disgenet |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
HTC2 |
disease |
C1864652 |
Biomarker |
0.01 |
disgenet |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate |
GRIN1 |
disease |
C1864652 |
GeneticVariation |
0.01 |
disgenet |
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