Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
0.740 Biomarker disease GENOMICS_ENGLAND Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma. 28677725 2017
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
0.740 GeneticVariation disease BEFREE Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. 27176872 2017
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
0.740 GeneticVariation disease BEFREE The detailed phenotype is described of the autosomal dominant cone-rod dystrophy, CORD7, which is associated with a point mutation in RIM1, a gene encoding a photoreceptor synaptic protein. 15665353 2005
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
0.740 GeneticVariation disease BEFREE Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 12659814 2003
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
0.740 GeneticVariation disease UNIPROT Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 12659814 2003
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
0.740 GeneticVariation disease BEFREE Haplotype analysis localized the disease gene in our adMD family to an 8-cM region at 6q14, which is within the 18-cM interval of STGD3 but excludes cone-rod dystrophy 7 (CORD7; centromeric) and North Carolina macular degeneration and progressive bifocal chorioretinal atrophy (MCDR1/PBCRA; telomeric). 10634627 2000
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
0.740 Biomarker disease CTD_human
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
0.740 CausalMutation disease CLINVAR