CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
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 Choroideremia (CHM) is a rare inherited retinal degeneration resulting from mutation of the CHM gene, which results in absence of functional Rab escort protein 1 (REP1). 30308560 2020
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE Sustained improvement or maintenance of BCVA is achievable in choroideremia with high-dose AAV2-REP1, indicating BCVA is a viable primary outcome in advanced choroideremia. 30240725 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 AlteredExpression disease BEFREE However, the choroideremia (CHM) gene is expressed in all retinal layers, and a previous study on a small cohort of choroideremia patients suggested possible thinning of the retinal nerve fibre layer (RNFL). 30575280 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE Phase 1 and 2 studies of AAV2-REP1 in patients with choroideremia have produced encouraging results, suggesting that it is possible not only to slow or stop the decline in vision following treatment with AAV2-REP1, but also to improve visual acuity in some patients. 30617669 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE To assess the safety and efficacy of retinal gene therapy with an adeno-associated virus vector (AAV2) designed to deliver a functional version of the CHM gene (AAV2-REP1) for treatment of patients with choroideremia. 31465092 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE Choroideremia is a monogenic X-linked recessive chorioretinal disease linked to pathogenic variants in the CHM gene. 30341801 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC). 30689859 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia. 30995293 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 AlteredExpression disease BEFREE <i>CHM</i> is ubiquitously expressed in human cells and encodes Rab escort protein 1 (REP1). 29707603 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia. 29721931 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE In this paper, we reviewed ‎the pathogenic ‎effects of synonymous hotspot mutation in the CHM gene and the genotypic-phenotypic associations in families with CHM. 29555028 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE We designed an adeno-associated viral vector to express REP1 and assessed it in a gene therapy clinical trial by subretinal injection in 14 patients with choroideremia. 30297895 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 AlteredExpression disease BEFREE As gene therapy of choroideremia is becoming a clinical reality, there is a need for reliable and sensitive assays to determine the expression of exogenously delivered Rab Escort Protein-1 (REP1), in particular to test new gene therapy vectors and as a quality control screen for clinical vector stocks. 29188508 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 AlteredExpression disease BEFREE Despite ubiquitous expression of the CHM gene, the primary defect in choroideremia is driven by retinal pigment epithelium (RPE) and photoreceptors degeneration. 29932012 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE The CHM gene [choroideremia (Rab escort protein 1)] has been identified as the pathogenic gene in choroideremia. 29620233 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE To assess the safety of a recombinant adeno-associated viral vector expressing REP1 (rAAV2.REP1) in choroideremia subjects. 29940166 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE The results confirm that AAV-mediated delivery of the REP1-encoding gene can rescue defects in CHM iPSC-RPE regardless of the type of disease-causing mutation. 29414605 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively. 29377744 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE Sequencing of the Rep-1 gene supplemented with MLPA is therefore an important diagnostic strategy in choroideremia patients. 28774736 2017
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE Mutations in REP1 cause a disease called choroideremia (CHM), which is an X-linked eye disease. 28055019 2017
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia. 28643494 2017
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE Rab escort protein-1 (REP1) is linked to choroideremia (CHM), an X-linked degenerative disorder caused by mutations of the gene encoding REP1 (CHM). 28230863 2017
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE CHM encodes REP1, which plays a key role in the prenylation of Rab GTPases. 28911202 2017
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 Biomarker disease BEFREE Here, the recovery of retinal structure and function over the first month following iatrogenic retinal detachment for the delivery of adeno-associated viral vector encoding Rab Escort Protein 1 is described as a part of gene therapy for choroideremia. 28152124 2017
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation disease BEFREE In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in CHM in two males with choroideremia. 28041643 2017