cone-rod dystrophy

Summary
Synonym
  • cone-rod retinal dystrophy
Definition
A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
Super Class
monogenic disease retinal degeneration
External Links
Disease Ontology
DOID:0050572
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 30 of 83 in total
Gene ID Gene Symbol Description Source
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3033 HADH hydroxyacyl-CoA dehydrogenase
3098 HK1 hexokinase 1
3099 HK2 hexokinase 2
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
3612 IMPA1 inositol monophosphatase 1
Related Glycoprotein
Displaying entries 71 - 72 of 72 in total
UniProt ID Protein Name Source
Q9Y5P6 Mannose-1-phosphate guanyltransferase beta
Q9Y6A1 Protein O-mannosyl-transferase 1

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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: August 19, 2024