RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. 24327336 2014
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 Biomarker disease CTD_human
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 GeneticVariation disease CLINVAR
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 CausalMutation disease CLINVAR
CUI: C2751092
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		0.600 Biomarker disease GENOMICS_ENGLAND