Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
0.020 GeneticVariation disease BEFREE Previously, we found that mosaic deletion of Kcnj13, and subsequent loss of the potassium channel Kir7.1, in mice leads to photoreceptor degeneration and recapitulates the human retinal disease phenotype (Zhong et al., 2015). 30009826 2018
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
0.020 Biomarker disease BEFREE Mosaic expression correlates with decreased response to light and photoreceptor degeneration, indicating that Kcnj13 mutant mice mimic human KCNJ13-related LCA disease. 25666713 2015