Link to this page
Online Mendelian Inheritance in Man
| 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 |
|
| MIMTYPEMEANING |
Gene with known sequence
|
|
| notation |
123590
|
|
| OMIM Entry Type |
1
|
|
| OMIM MimType Value |
star
|
|
| prefLabel |
CRYSTALLIN, ALPHA-B
|
|
| tui |
T047 T033 T190 T028
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |