Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

TITIN

Synonyms

HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE

ID

http://purl.bioontology.org/ontology/OMIM/188840

altLabel

HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE

SALIH MYOPATHY

TIBIAL MUSCULAR DYSTROPHY, TARDIVE

CARDIOMYOPATHY, DILATED, 1G

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

TTN

CONNECTIN

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9

cui

C1421222

C1863599

C1861065

C2673677

C1837342

C1858763

C1838244

Gene Locus

2q31

Gene Symbol

MPRM

SALMY

LGMD2J

TMD

HMERF

TTN

CMD1G

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/188840.0011

http://purl.bioontology.org/ontology/OMIM/188840.0012

http://purl.bioontology.org/ontology/OMIM/188840.0003

http://purl.bioontology.org/ontology/OMIM/188840.0006

http://purl.bioontology.org/ontology/OMIM/188840.0004

http://purl.bioontology.org/ontology/OMIM/188840.0005

http://purl.bioontology.org/ontology/OMIM/188840.0001

http://purl.bioontology.org/ontology/OMIM/188840.0002

http://purl.bioontology.org/ontology/OMIM/188840.0015

http://purl.bioontology.org/ontology/OMIM/188840.0013

http://purl.bioontology.org/ontology/OMIM/188840.0014

http://purl.bioontology.org/ontology/OMIM/188840.0007

http://purl.bioontology.org/ontology/OMIM/188840.0008

http://purl.bioontology.org/ontology/OMIM/188840.0010

http://purl.bioontology.org/ontology/OMIM/188840.0009

MIMTYPEMEANING

Gene with known sequence

notation

188840

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TITIN

tui

T028

T047

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