Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SEQUESTOSOME 1

Synonyms

P62

ID

http://purl.bioontology.org/ontology/OMIM/601530

altLabel

P62

MYOPATHY, DISTAL, WITH RIMMED VACUOLES

UBIQUITIN-BINDING PROTEIN P62

PAGET DISEASE OF BONE 3

NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET

FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3

SQSTM1

cui

C4310693

C4225326

C4085252

C1420393

C1853926

Gene Locus

5q35

Gene Symbol

NADGP

DMRV

P62

PDB3

SQSTM1

FTDALS3

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601530.0006

http://purl.bioontology.org/ontology/OMIM/601530.0002

http://purl.bioontology.org/ontology/OMIM/601530.0007

http://purl.bioontology.org/ontology/OMIM/601530.0008

http://purl.bioontology.org/ontology/OMIM/601530.0010

http://purl.bioontology.org/ontology/OMIM/601530.0004

http://purl.bioontology.org/ontology/OMIM/601530.0005

http://purl.bioontology.org/ontology/OMIM/601530.0003

http://purl.bioontology.org/ontology/OMIM/601530.0009

http://purl.bioontology.org/ontology/OMIM/601530.0001

MIMTYPEMEANING

Gene with known sequence

notation

601530

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

SEQUESTOSOME 1

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000015603 Protein Ontology LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101493 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C536816 Medical Subject Headings CUI