Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

CRYSTALLIN, ALPHA-B

Synonyms

CRYSTALLIN, ALPHA-2

CRYA2

CATARACT 16, POSTERIOR POLAR

CATARACT 16, CONGENITAL LAMELLAR

HEAT-SHOCK PROTEIN BETA-5

MYOPATHY, MYOFIBRILLAR, 2

CARDIOMYOPATHY, DILATED, 1II

MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED

CATARACT, JUVENILE

HSPB5

CRYAB

ID

http://purl.bioontology.org/ontology/OMIM/123590

altLabel

CRYSTALLIN, ALPHA-2

CRYA2

CATARACT 16, POSTERIOR POLAR

CATARACT 16, CONGENITAL LAMELLAR

HEAT-SHOCK PROTEIN BETA-5

MYOPATHY, MYOFIBRILLAR, 2

CARDIOMYOPATHY, DILATED, 1II

MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED

CATARACT, JUVENILE

HSPB5

CRYAB

cui

C5190691

C3554649

C1837317

C1439328

C4015991

C4015992

C0302254

Gene Locus

11q22.3-q23.1

Gene Symbol

CRYA2

CTRCT16

CMD1II

CRYAB

CTPP2

MFM2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/123590.0003

http://purl.bioontology.org/ontology/OMIM/123590.0001

http://purl.bioontology.org/ontology/OMIM/123590.0006

http://purl.bioontology.org/ontology/OMIM/123590.0008

http://purl.bioontology.org/ontology/OMIM/123590.0002

http://purl.bioontology.org/ontology/OMIM/123590.0007

http://purl.bioontology.org/ontology/OMIM/123590.0009

http://purl.bioontology.org/ontology/OMIM/123590.0005

http://purl.bioontology.org/ontology/OMIM/123590.0004

http://purl.bioontology.org/ontology/OMIM/123590.0010

http://purl.bioontology.org/ontology/OMIM/123590.0011

MIMTYPEMEANING

Gene with known sequence

notation

123590

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CRYSTALLIN, ALPHA-B

tui

T047

T033

T190

T028

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