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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 GeneticVariation phenotype BEFREE In SA without major psychiatric disorders (N = 498), a screening of 5,316 genes across the genome suggested association 17 genes (at fdr < 0.05).Genes RETREG1 (a.k.a. 30381879 2018
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		0.100 Biomarker disease HPO
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		0.100 Biomarker disease HPO
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		0.100 Biomarker disease HPO
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		0.100 Biomarker phenotype HPO
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.100 Biomarker disease HPO
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 AlteredExpression group BEFREE The copy number level of JK-1 (FAM134B) DNA in colorectal adenocarcinomas was significantly lower in comparison to colorectal adenomas. 24825067 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 PosttranslationalModification group BEFREE In addition, FAM134B promoter methylation correlated with cancer recurrence and poor survival rates of patients with colorectal adenocarcinomas. 29318692 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 AlteredExpression group BEFREE In colorectal adenocarcinomas, lower levels of JK-1(FAM134B) protein expression were associated with younger age (p=0.032), larger tumour size (p=0.004), advanced cancer stages (p=0.016) and higher rates of cancer recurrence (p=0.04). 24973512 2014
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.020 AlteredExpression disease BEFREE The aims of the study are to characterize changes in JK-1 (FAM134B) at the DNA level in colorectal adenocarcinoma and adenoma and exploring the possible correlations with clinical and pathological features. 24825067 2014
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.020 AlteredExpression disease BEFREE JK-1(FAM134B) expression profiles at mRNA and protein levels were investigated in cancer tissues from 236 patients with colorectal adenocarcinoma and 32 patients with colorectal adenoma using real-time polymerase chain reaction and immunohistochemistry. 24973512 2014
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 PosttranslationalModification group BEFREE FAM134B promoter methylation was more frequent in adenocarcinomas (52%; 85/164) when compared to that of adenomas (28%; 9/32) and non-neoplastic mucosae (35%; 29/83). 29318692 2018
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 AlteredExpression group BEFREE The aims of the study are to characterize changes in JK-1 (FAM134B) at the DNA level in colorectal adenocarcinoma and adenoma and exploring the possible correlations with clinical and pathological features. 24825067 2014
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.030 PosttranslationalModification disease BEFREE Methylation-specific high-resolution melt-curve analysis followed by sequencing was used to identify FAM134B promoter methylation in colorectal adenomas (N = 32), colorectal adenocarcinomas (N = 164), matched adjacent non-neoplastic colorectal mucosae (N = 83) and colon cancer cell lines (N = 4). 29318692 2018
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.030 AlteredExpression disease BEFREE The copy number level of JK-1 (FAM134B) DNA in colorectal adenocarcinomas was significantly lower in comparison to colorectal adenomas. 24825067 2014
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.030 AlteredExpression disease BEFREE JK-1(FAM134B) expression profiles at mRNA and protein levels were investigated in cancer tissues from 236 patients with colorectal adenocarcinoma and 32 patients with colorectal adenoma using real-time polymerase chain reaction and immunohistochemistry. 24973512 2014
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.020 Biomarker disease BEFREE FAM134B also plays a role in allergic rhinitis, vascular dementia, and identification of stem cells. 29226326 2018
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.020 GeneticVariation disease BEFREE Epistasis analysis revealed that, in conjunction with a SNP upstream of the FAM134B gene (rs257174), it increased the risk of allergic rhinitis (P = 1.98 × 10-6). 24970562 2014
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.100 Biomarker disease HPO
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		0.100 Biomarker phenotype HPO
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		0.010 GeneticVariation disease BEFREE Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009