RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
Disease: Hereditary Sensory and Autonomic Neuropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		0.520 GeneticVariation group BEFREE Assessment of the variants detected by mapped sequencing reads followed by Sanger confirmation revealed that the proband is a compound heterozygote for rare variants within RETREG1 (FAM134B), a gene associated with a recessive form of hereditary sensory and autonomic neuropathy, but not with epileptic encephalopathy or global developmental delay. 31475481 2019
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		0.520 GeneticVariation group BEFREE Mutations in FAM134B associated with hereditary sensory and autonomic neuropathy type IIB (HSAN IIB). 29226326 2018
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		0.520 Biomarker group GENOMICS_ENGLAND Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. 24327336 2014
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		0.520 Biomarker group GENOMICS_ENGLAND Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		0.520 Biomarker group CTD_human Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009