retinal cone dystrophy 4

Summary
Definition
A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13.
Super Class
cone dystrophy
Disease Ontology
DOID:0081023
Mondo Disease Ontology
MeSH
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
319734 Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
176155 unc-36 VWFA domain-containing protein;Voltage-dependent calcium channel unc-36
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0000551 Color vision defect
HP:0000662 Nyctalopia
HP:0000505 Visual impairment
HP:0007703 Abnormality of retinal pigmentation
HP:0000613 Photophobia
HP:0007984 Electronegative electroretinogram
HP:0007663 Reduced visual acuity
HP:0000007 Autosomal recessive inheritance
HP:0001133 Constriction of peripheral visual field
HP:0007814 Retinal pigment epithelial mottling
Displaying 1 entry
Gene ID Gene Symbol Description
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024