Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
DDX3X |
disease |
C0796184 |
GeneticVariation |
0.31 |
orphanet , disgenet |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
DDX3X |
disease |
C0796184 |
GermlineCausalMutation |
0.31 |
orphanet , disgenet |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
UBE3B |
disease |
C0796184 |
GeneticVariation |
0.01 |
disgenet |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
SATB2 |
disease |
C0796184 |
GeneticVariation |
0.01 |
disgenet |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
PGAP3 |
disease |
C0796184 |
Biomarker |
0.01 |
disgenet |
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