CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Choroidal and/or chorioretinal disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339383
Disease: Choroidal and/or chorioretinal disorder
Choroidal and/or chorioretinal disorder 		0.010 GeneticVariation disease BEFREE Choroidermia (CHM) is an X-linked chorioretinal disorder caused by mutations in the Rab Escort Protein 1 (Rep-1) gene. 28774736 2017