Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 AlteredExpression disease BEFREE ALS-increased DEGs had high exosome expression, were neutrophil-specific, associated with translation, and overlapped significantly with genes near ALS susceptibility loci (e.g., IFRD1, TBK1, CREB5). 31118040 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 GeneticVariation phenotype BEFREE SCA18 is a rare autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) associated with a single missense variant c.514 A>G in the interferon related developmental regulator 1 (IFRD1) gene previously reported in a five-generation American family of Irish origin. 29362493 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation phenotype BEFREE SCA18 is a rare autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) associated with a single missense variant c.514 A>G in the interferon related developmental regulator 1 (IFRD1) gene previously reported in a five-generation American family of Irish origin. 29362493 2018
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 GeneticVariation disease BEFREE However, to date, there have been no other reports of the IFRD1 mutation to confirm its role in SCA. 29362493 2018
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 Biomarker disease BEFREE Taken together, our findings reveal that ORI protects against OVX-induced bone loss via inhibiting osteoclastic bone resorption but enhancing osteoblastic bone formation through abolishing both Ifrd1-mediating and IκBα-mediated p65 nuclear translocation. 29091322 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 Biomarker disease BEFREE These results show the potential of ORI for treatment of osteoporosis and highlight Ifrd1 as a another novel promising target for anti-osteoporotic drugs. 29091322 2018
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 GeneticVariation group BEFREE Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. 29362493 2018
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		0.010 GeneticVariation disease BEFREE Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. 29362493 2018
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 GeneticVariation group BEFREE Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. 29362493 2018
CUI: C0004096
Disease: Asthma
Asthma 		0.010 Biomarker disease BEFREE Genes such as VEGFA, and IFRD1, and ZNF331 may be associated with pathogenesis of asthma. 27842724 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 AlteredExpression disease BEFREE We address the hypothesis that increased IFRD1 expression in colon cancers is associated with poorer patient survival. 29094309 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE We have demonstrated that high IFRD1 protein expression in colon cancer is associated with poorer patient prognosis, suggesting a potential role for IFRD1 in modulating tumor behavior. 29094309 2017
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.010 GeneticVariation disease BEFREE These results showed the association of the IFRD1-rs7817 polymorphism with NP in CF patients. 26397160 2015
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 GeneticVariation disease BEFREE This study suggests that the SNPs of IFRD1 rs7818 and rs6968084 have nothing to do with the gastric cancer susceptibility. 25073439 2014
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 GeneticVariation disease BEFREE This study suggests that the SNPs of IFRD1 rs7818 and rs6968084 have nothing to do with the gastric cancer susceptibility. 25073439 2014
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE PC4 protein expression is significantly upregulated in NSCLC carcinoma tissues compared with their adjacent noncancerous counterparts as shown by immunohistochemical staining and western blotting in 104 pairs of formalin-fixed human NSCLC specimens and 6 fresh NSCLC samples. 22918472 2012
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		0.010 Biomarker group BEFREE 12-O-tetradecanoyl phorbol-13-acetate-induced sequence 7/interferon related development regulator 1 (Tis7/IFRD1) has been recently identified as a modifier gene in lung inflammatory disease severity in patients with cystic fibrosis (CF), based upon its capacity to regulate inflammatory activities in neutrophils. 21723850 2011
CUI: C0392164
Disease: Pulmonary Cystic Fibrosis
Pulmonary Cystic Fibrosis 		0.010 Biomarker disease BEFREE This approach identified IFRD1 as a modifier of cystic fibrosis lung disease severity. 19242412 2009
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE Cardiopulmonary bypass with myocardial ischemia rapidly induces the immediate early genes TIS7/PC4 (discovered by subtraction hybridization), and c-fos and c-jun (precursors to the transcriptional regulator AP-1). 11834005 2002
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 GeneticVariation disease BEFREE Cardiopulmonary bypass with myocardial ischemia rapidly induces the immediate early genes TIS7/PC4 (discovered by subtraction hybridization), and c-fos and c-jun (precursors to the transcriptional regulator AP-1). 11834005 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21. 9050919 1997
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21. 9050919 1997
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21. 9050919 1997
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21. 9050919 1997
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.020 Biomarker group BEFREE Interferon-Related Developmental Regulator 1 (IFRD1) gene was reported as a possible modifier of CF lung disease severity. 26397160 2015