CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Complete hydatidiform mole ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		0.040 Biomarker disease BEFREE CHM encodes REP1, which plays a key role in the prenylation of Rab GTPases. 28911202 2017
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		0.040 GeneticVariation disease BEFREE CHM is caused by mutations in the Rab Escort Protein 1 (REP-1) gene, which encodes a protein involved in vesicular trafficking. 22017263 2012
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		0.040 Biomarker disease BEFREE Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM. 22025891 2011
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		0.040 Biomarker disease BEFREE However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function. 17935254 2007