Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.140 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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.140 GeneticVariation disease BEFREE Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 12659814 2003
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.140 Biomarker disease HPO
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0423414
Disease: Retinal flecking
Retinal flecking 		0.100 Biomarker phenotype HPO
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.040 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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.040 GeneticVariation disease BEFREE Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. 17237123 2007
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.040 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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.040 GeneticVariation disease BEFREE Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 12659814 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE The incidences of the five imaging signs were as follows: A) visualization on both sagittal and axial images (12/12, 100%), B) dural penetration (10/12, 83.3%), C) associated tethered cord (7/12, 58.3%), D) presence of tumor or inflammation (4/12, 33.3%), and E) attachment to the conus medullaris (4/12, 33.3%). 30944782 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE Nine of these tumors (1 ESN, 8 ESSs, and 1 UES) exhibited unusual histologic features, including smooth muscle (3), sex cord (7), epithelioid (1), fibromyxoid (1), and skeletal muscle (2) differentiation. 23211293 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE Gene-expression microarray analysis of RIMs (n = 5) compared to non-RIMs (MEN, n = 6) and a panel of other tumors (n = 62) showed that RIM gene-expression was similar to that seen in MEN, and by clustering analysis did not separate from them. 18604545 2008
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.020 GeneticVariation disease BEFREE We report a patient who was heterozygous for the RIM1 mutation with bilateral CMO and who manifested a retinitis pigmentosa phenotype. 27176872 2017
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.020 GeneticVariation group BEFREE An established paradigm examining the structural and functional effects of mutations in genes expressed in the eye and the brain was used to study a kindred with an inherited retinal dystrophy due to RIMS1 mutation. 17237123 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.020 Biomarker disease BEFREE Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in arRP, a role for this gene in other inherited forms of RP as well as other retinal dystrophies needs to be elucidated. 15746564 2005
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.020 GeneticVariation disease LHGDN Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in arRP, a role for this gene in other inherited forms of RP as well as other retinal dystrophies needs to be elucidated. 15746564 2005
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.020 Biomarker group BEFREE Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in arRP, a role for this gene in other inherited forms of RP as well as other retinal dystrophies needs to be elucidated. 15746564 2005
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE In addition, one of the affected children carries a rare deleterious de novo mutation in the ASD candidate gene RIMS1. 30949922 2019