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loading...| Preferred Name | BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE | |
| Synonyms |
BCKDHA BCKDE1A BCKD, E1-ALPHA SUBUNIT MAPLE SYRUP URINE DISEASE, TYPE IA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/608348 |
|
| altLabel |
BCKDHA BCKDE1A BCKD, E1-ALPHA SUBUNIT MAPLE SYRUP URINE DISEASE, TYPE IA |
|
| cui |
C1412759 C1855369 |
|
| Gene Locus |
19q13.1-q13.2 |
|
| Gene Symbol |
MSUD1A BCKDHA |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/608348.0002 http://purl.bioontology.org/ontology/OMIM/608348.0007 http://purl.bioontology.org/ontology/OMIM/608348.0003 http://purl.bioontology.org/ontology/OMIM/608348.0004 http://purl.bioontology.org/ontology/OMIM/608348.0006 http://purl.bioontology.org/ontology/OMIM/608348.0009 http://purl.bioontology.org/ontology/OMIM/608348.0001 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
608348 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE |
|
| tui |
T047 T028 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C535710 | MESH | CUI | |
| http://www.limics.org/hrdo/rdfns#gen_id_15360 | HRDO | LOOM |