ERLIN2, ER lipid raft associated 2, 11160

N. diseases: 85; N. variants: 4
Disease: Sensory neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.110 GeneticVariation disease BEFREE SPG2/Proteolipid protein and SPG42/Connexin 47); (5) protein folding and ER-stress response (SPG6/NIPA1, SPG8/K1AA0196 (Strumpellin), SGP17/BSCL2 (Seipin), "mutilating sensory neuropathy with spastic paraplegia" owing to CcT5 mutation and presumably SPG18/ERLIN2); (6) corticospinal tract and other neurodevelopment (e.g. 23897027 2013
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.110 Biomarker disease HPO