Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 CausalMutation disease CLINVAR Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. 23885164 2013
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 Biomarker disease BEFREE Biallelic disease-causing variants were identified in four Japanese patients with CDSRR suggesting that the pathognomonic electrophysiological features are helpful in making a molecular diagnosis of KCNV2. 23885164 2013
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 GeneticVariation disease BEFREE Our results support recent studies showing that CDSRR can be misdiagnosed, and therefore screening of KCNV2 for mutations should be considered in patients with cone-dominated diseases, particularly when dark-adapted responses are delayed. 23725738 2013
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 CausalMutation disease CLINVAR Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. 23115240 2012
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 CausalMutation disease 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
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 GeneticVariation disease BEFREE In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunction, indicating that CDSRR is underdiagnosed and more common than previously thought. 21882291 2011
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 CausalMutation disease CLINVAR Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. 21882291 2011
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 CausalMutation disease CLINVAR Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. 18235024 2008
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 GermlineCausalMutation disease ORPHANET Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. 18235024 2008
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 GeneticVariation disease BEFREE Mutations in PDE6H and in KCNV2 have been described in CDSRR. 18235024 2008
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 GermlineCausalMutation disease ORPHANET Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. 18400204 2008
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 GermlineCausalMutation disease ORPHANET "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans." 16909397 2006
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 GeneticVariation disease UNIPROT "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans." 16909397 2006
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		0.740 Biomarker disease CTD_human
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group BEFREE Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. 23143909 2013
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder) 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		0.100 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.100 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 CausalMutation group CLINVAR Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. 21882291 2011
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO