cherry red spot of the macula Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. (Human Phenotype Ontology, HP_0010729)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010729
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Genes

7 genes associated with the cherry red spot of the macula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
CTSA cathepsin A
GLB1 galactosidase, beta 1
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
NEU1 sialidase 1 (lysosomal sialidase)
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal