abnormal rod and cone electroretinograms Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the combined rod-and-code response on electroretinogram. (Human Phenotype Ontology, HP_0008323)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008323
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Genes

13 genes associated with the abnormal rod and cone electroretinograms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CERKL ceramide kinase-like
CLRN1 clarin 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
MFRP membrane frizzled-related protein
NR2E3 nuclear receptor subfamily 2, group E, member 3
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
TTC8 tetratricopeptide repeat domain 8
ZNF513 zinc finger protein 513
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