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loading...| Preferred Name | EPM2A GLUCAN PHOSPHATASE, LAFORIN | |
| Synonyms |
MYOCLONIC EPILEPSY OF LAFORA 1 EPM2A EPM2A, ISOFORM A LAFORIN EPM2A, ISOFORM B |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/607566 |
|
| altLabel |
MYOCLONIC EPILEPSY OF LAFORA 1 EPM2A EPM2A, ISOFORM A LAFORIN EPM2A, ISOFORM B |
|
| cui |
C5848203 C1414435 |
|
| Gene Locus |
6q24 |
|
| Gene Symbol |
EPM2A MELF2 |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/607566.0010 http://purl.bioontology.org/ontology/OMIM/607566.0003 http://purl.bioontology.org/ontology/OMIM/607566.0005 http://purl.bioontology.org/ontology/OMIM/607566.0004 http://purl.bioontology.org/ontology/OMIM/607566.0009 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
607566 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
EPM2A GLUCAN PHOSPHATASE, LAFORIN |
|
| tui |
T047 T028 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/LNC/LP35094-9 | LOINC | CUI | |
| http://www.orpha.net/ORDO/Orphanet_121577 | ORDO | LOOM |