RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
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
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
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		0.410 GeneticVariation disease BEFREE Although mutations in FAM134B and the HSN2 exon of WNK1 were associated with HSANII, the etiology of a substantial number of cases remains unexplained. 21820098 2011
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		0.410 Biomarker disease CTD_human Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		0.410 CausalMutation disease CLINVAR
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
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.300 Biomarker disease CTD_human Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		0.300 Biomarker disease CTD_human Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
CUI: C0086405
Disease: Hereditary Sensory Radicular Neuropathy
Hereditary Sensory Radicular Neuropathy 		0.300 Biomarker disease CTD_human Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
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
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		0.300 Biomarker disease CTD_human Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.300 Biomarker disease CTD_human
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Overexpression of FAM134B was significantly associated with tumor size (P = 0.025), pathological vascular invasion (P = 0.026), differentiation grade (P = 0.023), cancer recurrence (P = 0.044), and portal vein tumor thrombus (P = 0.036) in HCC. 30556279 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Overexpression of FAM134B mRNA and protein was present in 31.2% (n = 29/93) and 36.6% (n = 41/112), respectively, in tumors, whereas downregulation occurred in 39.8% (n = 37/93) and 63.4% (n = 71/112), respectively. 30794892 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Recent work has exhibited that FAM134B plays a pivotal role in autophagy-mediated turnover of endoplasmic reticulum (ER) membranes, tumor inhibition and lipid homeostasis. 31446166 2019