REEP1, receptor accessory protein 1, 65055

N. diseases: 79; N. variants: 17
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		0.510 GermlineCausalMutation disease ORPHANET Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882 2012
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		0.510 GeneticVariation disease BEFREE Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882 2012
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		0.510 Biomarker disease CTD_human