Disease: Retinal Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.040 GeneticVariation group BEFREE Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. 23885164 2013
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.040 Biomarker group BEFREE We report the case of a 6-year-old boy with typical electrophysiology findings of KCNV2 retinopathy but with abnormal cone dysfunction compared to other patients with mutations in KCNV2. 24210337 2013
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.040 Biomarker group BEFREE In KCNV2 retinopathy foveal morphological changes are evident on SD-OCT even in the early stages of disease. 21558291 2012
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.040 Biomarker group BEFREE Rod and cone function in patients with KCNV2 retinopathy. 23077521 2012