Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT

Synonyms

STUTTERING, FAMILIAL PERSISTENT, 1

ID

http://purl.bioontology.org/ontology/OMIM/607244

altLabel

STUTTERING, FAMILIAL PERSISTENT, 1

SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE

AP4E1

cui

C1412453

C3489627

C3151056

Gene Locus

15q21.2

Gene Symbol

STUT1

CPSQ4

AP4E1

SPG51

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/607244.0004

http://purl.bioontology.org/ontology/OMIM/607244.0002

http://purl.bioontology.org/ontology/OMIM/607244.0003

http://purl.bioontology.org/ontology/OMIM/607244.0001

MIMTYPEMEANING

Gene with known sequence

notation

607244

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT

tui

T028

T047

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http://purl.bioontology.org/ontology/MESH/D013342 Medical Subject Headings CUI