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Search summary (UniProt accession: Q8N6M0)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q8N6M0)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0044319
MONDO:0044319
Disease Name:
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
OMIM id:
OMIM:617452
Orphanet id:
Orphanet:505237
All associated enzymes in DAR:
OTUD6B
OTUD6B
Q8N6M0
3.4.19.12