HOME/SEARCH
BROWSE DAR
DISEASE
REACTOMES
ENZYMES
EC NUMBERS
STATISTICS
DOWNLOADS
HELP
Search summary (UniProt accession: Q8NB90)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q8NB90)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0014698
MONDO:0014698
Disease Name:
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
OMIM id:
OMIM:616577
Orphanet id:
Orphanet:457351
All associated enzymes in DAR:
SPATA5
SPATA5
Q8NB90
3.6.4.10