RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009