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Search summary (UniProt accession: Q6MZM0)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q6MZM0)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0009871
MONDO:0009871
Disease Name:
pili torti-developmental delay-neurological abnormalities syndrome
OMIM id:
OMIM:261990
Orphanet id:
Orphanet:2891
All associated enzymes in DAR:
HEPHL1
HEPHL1
Q6MZM0
1.16.3.1