Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.440 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.440 GeneticVariation disease BEFREE Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively. 29377744 2018
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.440 GeneticVariation disease BEFREE Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa. 26216097 2015
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.440 GeneticVariation disease BEFREE Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. 24913019 2014
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.440 GeneticVariation disease LHGDN Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. 18487380 2008
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.440 Biomarker disease GENOMICS_ENGLAND