IRF1, interferon regulatory factor 1, 3659

N. diseases: 257; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.660 GeneticVariation disease BEFREE SNP rs56288038 (C/G) in IRF-1 3'UTR was involved in the occurrence of GC by acting as a tumor promoter factor. 27866197 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.660 GeneticVariation disease BEFREE The interferon regulatory factor-1 (IRF1) gene, localized on chromosome 5q31.1, is mutated or rearranged in several cancers including some hematopoietic and gastric cancers. 19697121 2010
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.650 GeneticVariation disease UNIPROT Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer. 9679752 1998
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.650 GeneticVariation disease BEFREE Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer. 9679752 1998
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.650 GeneticVariation disease BEFREE SNP rs56288038 (C/G) in IRF-1 3'UTR was involved in the occurrence of GC by acting as a tumor promoter factor. 27866197 2016
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.650 GeneticVariation disease UNIPROT Interferon regulatory factor 1 tryptophan 11 to arginine point mutation abolishes DNA binding. 10395927 1999
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.380 GeneticVariation disease BEFREE Involved in regulation of differentiation and proliferation, IRF-1 acts as a tumor suppressor gene and is inactivated by deletion of its one or more exons (exon skipping) in many hematological malignancies, including acute myelocytic leukemia (AML) and myelodysplastic syndromes (MDS). 21790247 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.380 GeneticVariation disease BEFREE We have investigated the allelic loss of IRF1 in a group of 12 patients with MDS and a 5q deletion and 2 patients with AML and a 5q deletion. 8219215 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Expression of tumor-suppressor genes interferon regulatory factor 1 and death-associated protein kinase in primitive acute myelogenous leukemia cells. 11264190 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We did not detect integration of the IRF-1 gene in the DNA of any tumors derived from the CML patient samples, and also we detected no expression of human IRF-1 mRNA. 8795694 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Many of the MDS-derived cell lines carry cytogenetic and molecular genetic abnormalities typically associated with MDS: gain or loss of all or parts of chromosomes 5, 7, 8 and 20 (-5/5q-, -7/7q-, + 8, 20q-); alterations of oncogenes and tumor suppressor genes (IRF-1, p15, p16, p53, RAS, RB). 10654445 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE SNP rs56288038 (C/G) in IRF-1 3'UTR was involved in the occurrence of GC by acting as a tumor promoter factor. 27866197 2016
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.100 GeneticVariation phenotype GWASDB Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). 20978265 2011
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.100 GeneticVariation phenotype GWASDB Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). 20978265 2011
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.100 GeneticVariation phenotype GWASDB Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). 20978265 2011
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.100 GeneticVariation group BEFREE We have investigated the allelic loss of IRF1 in a group of 12 patients with MDS and a 5q deletion and 2 patients with AML and a 5q deletion. 8219215 1993
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.100 GeneticVariation group BEFREE The interferon regulatory factor 1 (IRF-1) gene is located at 5q31, the site of common deletions in myelodysplastic syndromes (MDS) and secondary leukemias. 10807049 2000
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.100 GeneticVariation group BEFREE Many of the MDS-derived cell lines carry cytogenetic and molecular genetic abnormalities typically associated with MDS: gain or loss of all or parts of chromosomes 5, 7, 8 and 20 (-5/5q-, -7/7q-, + 8, 20q-); alterations of oncogenes and tumor suppressor genes (IRF-1, p15, p16, p53, RAS, RB). 10654445 2000
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.100 GeneticVariation group BEFREE Involved in regulation of differentiation and proliferation, IRF-1 acts as a tumor suppressor gene and is inactivated by deletion of its one or more exons (exon skipping) in many hematological malignancies, including acute myelocytic leukemia (AML) and myelodysplastic syndromes (MDS). 21790247 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.080 GeneticVariation phenotype BEFREE Deletions, mutations or aberrant splicing of IRF-1 would result in its functional inactivation, and closely related to the tumorigenesis. 28039033 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 GeneticVariation disease BEFREE We now report that the A4396G single nucleotide polymorphism in the IRF1 gene is more frequent in human breast cancer cell lines than in the general population (P = 0.01). 17498560 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 GeneticVariation group BEFREE IRF-1 gene rearrangements may be a crucial point in the pathogenesis of some cancer types. 11846974 2002
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.070 GeneticVariation disease LHGDN Our findings suggest the possibility that the -300AA IRF-1 genotype is associated with outcome in patients with HCV genotype 3 infection. 16894313 2006