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Search summary (Disease ID: MONDO:0013127)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (Disease ID: MONDO:0013127)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0013127
MONDO:0013127
Disease Name:
asphyxiating thoracic dystrophy 3
OMIM id:
OMIM:613091
Orphanet id:
Orphanet:93270
All associated enzymes in DAR:
NEK1
. The disease is also associated to other non-enzyme proteins (not in DAR).
NEK1
Q96PY6
2.7.11.1