Preferred Name

ACTIN, ALPHA, SKELETAL MUSCLE 1

Synonyms

ACTA1

ID

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

altLabel

ACTA1

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION

NEMALINE MYOPATHY 3

ASMA

MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

MYOPATHY, SCAPULOHUMEROPERONEAL

MYOPATHY, ACTIN, CONGENITAL, WITH CORES

cui

C2750537

C3711389

C4225181

C1834339

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

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C579880 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C579880 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP36761-2 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C563529 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D020914 Medical Subject Headings / 医学主题词表 CUI