Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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

http://purl.bioontology.org/ontology/OMIM/300110.0007

http://purl.bioontology.org/ontology/OMIM/300110.0010

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

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