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Search summary (UniProt accession: Q96HD1)
Number of enzymes:
1
Number of disease:
2
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q96HD1)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0011650
MONDO:0011650
Disease Name:
atrioventricular septal defect, susceptibility to, 2
OMIM id:
OMIM:606217
Orphanet id:
Orphanet:98722
All associated enzymes in DAR:
CRELD1
CRELD1
Q96HD1
5.3.4.1
MONDO:0015275
MONDO:0015275
Disease Name:
partial atrioventricular canal
OMIM id:
OMIM:600309
Orphanet id:
Orphanet:1330
All associated enzymes in DAR:
CRELD1
. The disease is also associated to other non-enzyme proteins (not in DAR).
CRELD1
Q96HD1
5.3.4.1