Source: ALL
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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.340 GeneticVariation disease BEFREE Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. 17962389 2008
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.340 GeneticVariation disease BEFREE Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. 17237123 2007
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.340 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: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.340 GeneticVariation disease BEFREE Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 12659814 2003
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.340 GermlineCausalMutation disease ORPHANET Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 12659814 2003
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease CTD_human Excess of rare, inherited truncating mutations in autism. 25961944 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 GeneticVariation disease BEFREE Rab3 interacting molecule 3 mutations associated with autism alter regulation of voltage-dependent Ca²⁺ channels. 26142343 2015
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0338831
Disease: Manic
Manic 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma. 28677725 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.300 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.140 GeneticVariation disease BEFREE Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. 17962389 2008
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.140 GeneticVariation disease BEFREE Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. 17237123 2007