Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9364
Gene Symbol: RAB28
RAB28 		0.100 CausalMutation disease CLINVAR New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 25356532 2015
Entrez Id: 9364
Gene Symbol: RAB28
RAB28 		0.100 CausalMutation disease CLINVAR Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 23746546 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.100 GeneticVariation disease CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693 2013
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.100 GeneticVariation disease BEFREE Heterozygous mutations in GUCA1A (MIM # 600364) have been identified to cause autosomal dominantly inherited cone dystrophy, cone rod dystrophy and macular dystrophy. 21405999 2011
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.100 GeneticVariation disease BEFREE In this study, we investigated the Ca(2+)-induced effects on the conformation and the thermal stability of four GCAP1 variants associated with hereditary human cone dystrophies. 20213926 2010
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.100 Biomarker disease BEFREE Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies. 20370318 2010
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.100 GeneticVariation disease BEFREE Mutations in the GUCA1A gene have been associated with different forms of cone dystrophies leading to impaired cone vision and retinal degeneration. 19459154 2009
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.100 GeneticVariation disease BEFREE We discovered a novel C312A transversion in exon 2 of the human GUCA1A gene, replacing Asn-104 (N104) in GCAP1 with Lys (K), in two affected members of a family with dominant cone dystrophy. 18706439 2008
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.100 GeneticVariation disease BEFREE The cone dystrophy in this family shares clinical and electrophysiologic characteristics with other previously described adCD caused by mutations in GUCA1A. 15735604 2005
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		0.100 GeneticVariation disease CLINVAR Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 15137946 2004
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.100 CausalMutation disease CLINVAR Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761 2000
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.100 GeneticVariation disease BEFREE Recently a mutation in the GUCA1A gene (coding for GCAP1) mapping to the 6p21.1 region was described as causing cone dystrophy in a British family. 10507726 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.100 GeneticVariation disease CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.100 CausalMutation disease CLINVAR
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4 		0.100 CausalMutation disease CLINVAR
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.100 CausalMutation disease CLINVAR
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.100 CausalMutation disease CLINVAR
Entrez Id: 83394
Gene Symbol: PITPNM3
PITPNM3 		0.100 Biomarker disease HPO
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2 		0.040 GeneticVariation disease BEFREE Cone dystrophy with supranormal rod electroretinogram (KCNV2 retinopathy) has pathognomonic electrophysiology findings that, if identified, direct molecular genetic testing. 24210337 2013
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2 		0.040 GeneticVariation disease 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