RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		0.300 Biomarker disease CTD_human Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009