Cone-Rod Dystrophy 7
0.740
Biomarker
disease
GENOMICS_ENGLAND
Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.
28677725
2017
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
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
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
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
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
Cone-Rod Dystrophy 7
0.740
Biomarker
disease
CTD_human
Cone-Rod Dystrophy 7
0.740
CausalMutation
disease
CLINVAR
Bipolar Disorder
0.400
GeneticVariation
disease
GWASCAT
Genome-wide association study identifies 30 loci associated with bipolar disorder.
31043756
2019
Bipolar Disorder
0.400
Biomarker
disease
CTD_human
Genome-wide association study identifies 30 loci associated with bipolar disorder.
31043756
2019
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
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
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
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
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
Autistic Disorder
0.310
Biomarker
disease
CTD_human
Excess of rare, inherited truncating mutations in autism.
25961944
2015
Autistic Disorder
0.310
GeneticVariation
disease
BEFREE
Rab3 interacting molecule 3 mutations associated with autism alter regulation of voltage-dependent Ca²⁺ channels.
26142343
2015
Depression, Bipolar
0.300
Biomarker
disease
CTD_human
Genome-wide association study identifies 30 loci associated with bipolar disorder.
31043756
2019
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
Disorder of eye
0.300
Biomarker
group
GENOMICS_ENGLAND
Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.
28677725
2017
Neurodevelopmental Disorders
0.300
Biomarker
group
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
Disorder of eye
0.300
Biomarker
group
GENOMICS_ENGLAND
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
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