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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/607244
http://purl.bioontology.org/ontology/OMIM/607244
|
|---|---|
| Preferred Name | ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT |
| Synonyms |
STUTTERING, FAMILIAL PERSISTENT, 1
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
AP4E1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
STUTTERING, FAMILIAL PERSISTENT, 1
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
AP4E1
|
|---|---|
| prefLabel |
ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT
|
| Gene Symbol |
STUT1
CPSQ4
AP4E1
SPG51
|
| notation |
607244
|
| Has allelic variant | |
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
15q21.2
|
| Phenotype of | |
| tui |
T047
T028
|
| cui |
C1412453
C3151056
C3489627
|
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