photoreceptor inner segment degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region (Mammalian Phenotype Ontology, MP_0008580)
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4 gene mutations causing the photoreceptor inner segment degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ASIC3 acid sensing (proton gated) ion channel 3
BBS1 Bardet-Biedl syndrome 1
CEP290 centrosomal protein 290kDa
CLCN3 chloride channel, voltage-sensitive 3