CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease BEFREE Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively. 29377744 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease BEFREE Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. 24913019 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease LHGDN Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. 18487380 2008
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker disease GENOMICS_ENGLAND