CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.040 Biomarker phenotype BEFREE It leads to progressive blindness due to deficiency of Rab-escort protein 1 (REP1). 30297895 2018
CUI: C0456909
Disease: Blindness
Blindness 		0.040 GeneticVariation phenotype BEFREE Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). 24439297 2014
CUI: C0456909
Disease: Blindness
Blindness 		0.040 GeneticVariation phenotype BEFREE Human genetic defects resulting in the loss one of two REP isoforms REP-1, lead to underprenylation of RabGTPases that manifests in retinal degradation and blindness known as choroideremia. 24358126 2013
CUI: C0456909
Disease: Blindness
Blindness 		0.040 GeneticVariation phenotype BEFREE Choroideraemia (tapetochoroidal dystrophy, TCD), a common form of X-linked blindness, is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. 2215697 1990