Table B.

OMIM Entries for Achromatopsia (View All in OMIM)

139340GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; GNAT2
216900ACHROMATOPSIA 2; ACHM2
262300ACHROMATOPSIA 3; ACHM3
600053CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
600827PHOSPHODIESTERASE 6C; PDE6C
601190PHOSPHODIESTERASE 6H; PDE6H
605080CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3
605537ACTIVATING TRANSCRIPTION FACTOR 6; ATF6
610024RETINAL CONE DYSTROPHY 3A; RCD3A
613093CONE DYSTROPHY 4; COD4
613856ACHROMATOPSIA 4; ACHM4
616517ACHROMATOPSIA 7; ACHM7

From: Achromatopsia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.