Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.010 Biomarker disease BEFREE Furthermore, because this gene maps in the critical region for the progressive myoclonus epilepsy I locus (EPM1), mutation analysis will be carried out in patients to evaluate the potential role of U2AF1 as a candidate for EPM1. 8660980 1996
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE The splicing factor U2AF1 contributes to cancer progression through a noncanonical role in translation regulation. 30842218 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 GeneticVariation phenotype BEFREE U2AF1 S34F induced expression of genes involved in the epithelial-mesenchymal transition (EMT) and increased tumor cell invasion. 31836708 2019
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.010 Biomarker disease BEFREE Moreover, significantly more mutated splicing genes (SF3B1, SRSF2 and U2AF1) were present in PMF (0·60 mutated genes/patient) compared to ET (0·15) while no mutations in splicing genes were found in PV. 27447873 2016
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 AlteredExpression disease BEFREE Our systematic analysis of proteins and glycoproteins demonstrates changes of protein and glycoprotein relative abundance in SqCC (TP53, U2AF1, and RXR) and in ADC (SMARCA4, NOTCH1, PTEN, and MST1). 28814946 2017
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		0.020 GeneticVariation disease BEFREE Here we show that a missense mutation affecting the serine at codon 34 (Ser34) in U2AF1 was recurrently present in 13 out of 150 (8.7%) subjects with de novo MDS, and we found suggestive evidence of an increased risk of progression to sAML associated with this mutation. 22158538 2011
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		0.020 GeneticVariation disease BEFREE Mutations affecting the spliceosomal protein U2AF1 are commonly found in myelodysplastic syndromes (MDS) and secondary acute myeloid leukemia (sAML). 30322915 2018
CUI: C0002894
Disease: Refractory anaemia with excess blasts
Refractory anaemia with excess blasts 		0.010 GeneticVariation disease BEFREE We sequenced complementary DNA from bone marrow of 47 refractory anemia with excess blasts (RAEB) patients, 29 AML cases with low marrow blast cell count, and 325 other AML patients and determined the presence of SF-hotspot mutations in SF3B1, U2AF35, and SRSF2. 24668493 2014
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.020 Biomarker disease BEFREE Mutations in mRNA splicing genes, especially in U2AF1, were significantly more frequent in PMF than in post-PV/ET MF (33 vs. 6%; P = 0.015). 28464892 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.020 Biomarker disease BEFREE Moreover, significantly more mutated splicing genes (SF3B1, SRSF2 and U2AF1) were present in PMF (0·60 mutated genes/patient) compared to ET (0·15) while no mutations in splicing genes were found in PV. 27447873 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation disease BEFREE We have asked how the common S34F mutation in the splicing factor U2AF1 regulates alternative splicing in lung cancer, and why wild-type U2AF1 is retained in cancers with this mutation. 27776121 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group BEFREE Although recurrent somatic mutations in the splicing factor U2AF1 (also known as U2AF35) have been identified in multiple cancer types, the effects of these mutations on the cancer transcriptome have yet to be fully elucidated. 24498085 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group BEFREE The cancer-associated U2AF35 470A>G (Q157R) mutation creates an in-frame alternative 5' splice site that impacts splicing regulation in Q157R patients. 28893951 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group BEFREE Taken together, our results demonstrate that ATR may represent a novel therapeutic target in patients with MDS carrying the U2AF1(S34F) mutation and potentially other malignancies harboring spliceosome mutations.<b>Significance:</b> This study provides preclinical evidence that patients with MDS or other myeloid malignancies driven by spliceosome mutations may benefit from ATR inhibition to exploit the R loop-associated vulnerability induced by perturbations in splicing.<i>Cancer Res; 78(18); 5363-74.©2018 AACR</i>. 30054334 2018
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 GeneticVariation disease BEFREE U2AF1 p.R35L was shown to induce aberrant splicing of downstream target genes, and shRNA knockdown of MED12 and USP9X was shown to confer resistance to apoptosis following T-ALL relevant chemotherapy drug treatment in Jurkat leukemia cells. 27602765 2016
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 GeneticVariation disease BEFREE Moreover, significantly more mutated splicing genes (SF3B1, SRSF2 and U2AF1) were present in PMF (0·60 mutated genes/patient) compared to ET (0·15) while no mutations in splicing genes were found in PV. 27447873 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.010 GeneticVariation disease BEFREE Except for mutations in U2AF1, which was mutated in 5 of the 38 malignant cases (13.2%) and in none of the idiopathic pancytopenia cases (P=0.011), the frequency of mutations in the genes evaluated was not significantly different between idiopathic pancytopenia and malignant cases. 27255165 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 Biomarker disease BEFREE A misspliced form of the cholecystokinin-B/gastrin receptor in pancreatic carcinoma: role of reduced sellular U2AF35 and a suboptimal 3'-splicing site leading to retention of the fourth intron. 11830556 2002
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008