CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Choroideremia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. 19597113 2009
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE A novel (967-970+2)delAAAGGT mutation existed in the CHM gene of a Japanese family with choroideremia. 18773267 2009
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. 19764077 2009
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease LHGDN A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings. 18773267 2009
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease UNIPROT The functional effect of pathogenic mutations in Rab escort protein 1. 19427510 2009
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease LHGDN Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. 18487380 2008
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE In families in whom the disease segregated with the CHM locus (n = 14), mutational screening of the REP-1 gene was performed. 18385043 2008
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease BEFREE However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. 17935254 2007
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE Deletion of the CHM gene causes severe choroideremia. 17698759 2007
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE We have previously identified a full-length L1 insertion in the CHM (choroideremia) gene of a patient with choroideremia, an X-linked progressive eye disease. 17483097 2007
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE In this study, mutational analysis of the CHM gene was performed on five Chinese families clinically diagnosed with CHM. 18087237 2007
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease LHGDN Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. 17698759 2007
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. 16936131 2006
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease BEFREE To study the pathogenesis of CHM and to develop a model for assessing gene therapy, we have created a conditional mouse knockout of the Chm gene. 16410831 2006
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease MGD Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. 16410831 2006
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease CLINVAR Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. 16936131 2006
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease LHGDN Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. 16087855 2005
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease BEFREE This review summarizes the current biochemical and clinical knowledge on REP1 and CHM. 15370541 2004
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE Mutations in members of this family, such as REP-1, lead to abnormalities, including progressive retinal degradation (choroideremia) in humans. 15186776 2004
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease LHGDN Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. 14566650 2003
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease BEFREE As a first step in developing gene-based therapies for this disease, we evaluated the feasibility of delivering functional REP-1 to defective lymphocytes and fibroblasts isolated from individuals with CHM. 12668061 2003
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. 14566650 2003
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE These included two partial CHM gene deletions and an insertion of a full-length L1 retrotransposon into the coding region of the CHM gene, a type of mutation that has not been previously reported as a cause of CHM. 12827496 2003
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease CLINVAR Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. 12827496 2003
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease CLINVAR Mutational analysis of patients with the diagnosis of choroideremia. 12203991 2002