Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ACTIN, ALPHA, SKELETAL MUSCLE 1
Synonyms

ACTA1
ID

http://purl.bioontology.org/ontology/OMIM/102610
altLabel

ACTA1

MYOPATHY, SCAPULOHUMEROPERONEAL (1 family)

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION

NEMALINE MYOPATHY 3

ASMA

MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

MYOPATHY, ACTIN, CONGENITAL, WITH CORES
cui

C2750537

C3711389

C1834339

C4225648

C0546264

C1412136
Gene Locus

1q42.1
Gene Symbol

NEM3

ACTA1

CFTD1

ASMA

SHPM
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/102610.0011

http://purl.bioontology.org/ontology/OMIM/102610.0010

http://purl.bioontology.org/ontology/OMIM/102610.0002

http://purl.bioontology.org/ontology/OMIM/102610.0003

http://purl.bioontology.org/ontology/OMIM/102610.0015

http://purl.bioontology.org/ontology/OMIM/102610.0017

http://purl.bioontology.org/ontology/OMIM/102610.0016

http://purl.bioontology.org/ontology/OMIM/102610.0008

http://purl.bioontology.org/ontology/OMIM/102610.0004

http://purl.bioontology.org/ontology/OMIM/102610.0009

http://purl.bioontology.org/ontology/OMIM/102610.0001

http://purl.bioontology.org/ontology/OMIM/102610.0012

http://purl.bioontology.org/ontology/OMIM/102610.0005

http://purl.bioontology.org/ontology/OMIM/102610.0006

http://purl.bioontology.org/ontology/OMIM/102610.0013

http://purl.bioontology.org/ontology/OMIM/102610.0014

http://purl.bioontology.org/ontology/OMIM/102610.0007

http://purl.bioontology.org/ontology/OMIM/102610.0018
MIMTYPEMEANING

Gene with known sequence
Moved from

300020
notation

102610
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ACTIN, ALPHA, SKELETAL MUSCLE 1
tui

T028

T019

T033

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C579880 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C579880 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP36761-2 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C563529 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.2 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D020914 Medical Subject Headings CUI