rs149648640, KCNV2;PUM3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinal Cone Dystrophy 3B
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
0.700 CausalMutation CLINVAR Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. 23885164 2013
Retinal Cone Dystrophy 3B
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
0.700 CausalMutation CLINVAR Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. 23115240 2012
Retinal Cone Dystrophy 3B
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
0.700 CausalMutation CLINVAR Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. 21911584 2011
Retinal Cone Dystrophy 3B
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
0.700 CausalMutation CLINVAR Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. 21882291 2011
Retinal Cone Dystrophy 3B
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
0.700 CausalMutation CLINVAR Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. 18235024 2008
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
0.010 GeneticVariation BEFREE Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. 21911584 2011