Preferred Name | CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT | |
Synonyms |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A ALAND ISLAND EYE DISEASE CONE-ROD DYSTROPHY, X-LINKED, 3 CACNA1F |
|
ID |
http://purl.bioontology.org/ontology/OMIM/300110 |
|
altLabel |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A ALAND ISLAND EYE DISEASE CONE-ROD DYSTROPHY, X-LINKED, 3 CACNA1F |
|
cui |
C4016457 C0268505 C1413060 C1845407 C1848172 |
|
Gene Locus |
Xp11.23 |
|
Gene Symbol |
CORDX3 CSNB2 AIED CSNB2A CACNA1F OA2 |
|
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/300110.0008 http://purl.bioontology.org/ontology/OMIM/300110.0006 http://purl.bioontology.org/ontology/OMIM/300110.0005 http://purl.bioontology.org/ontology/OMIM/300110.0004 http://purl.bioontology.org/ontology/OMIM/300110.0003 http://purl.bioontology.org/ontology/OMIM/300110.0002 http://purl.bioontology.org/ontology/OMIM/300110.0001 http://purl.bioontology.org/ontology/OMIM/300110.0009 |
|
MIMTYPEMEANING |
Gene with known sequence |
|
notation |
300110 |
|
OMIM Entry Type |
1 |
|
OMIM MimType Value |
star |
|
prefLabel |
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT |
|
tui |
T047 T033 T028 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C562664 | MESH | CUI | |
http://purl.bioontology.org/ontology/MESH/C564507 | MESH | CUI | |
http://purl.bioontology.org/ontology/MESH/C536122 | MESH | CUI | |
http://purl.bioontology.org/ontology/SNMI/D6-A2540 | SNMI | CUI |