CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Disorder of eye ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 GeneticVariation group BEFREE Mutations in REP1 cause a disease called choroideremia (CHM), which is an X-linked eye disease. 28055019 2017
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 GeneticVariation group 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: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 GeneticVariation group BEFREE Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. 9067750 1997
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND