CNTRL, centriolin, 11064

N. diseases: 29; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.200 Biomarker disease MGD
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
0.100 GeneticVariation phenotype GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 Biomarker disease BEFREE A-CEP-1 were positive in 77% of RF(+) RA patients, in 56% of RF(-) RA patients, in 8.7% of UA patients, but they were negative in controls. 30406565 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 Biomarker disease BEFREE Our findings indicate that anti-CEP-1 may not be able to replace anti-CCP2 for routine diagnosis for RA, but they may be helpful for subtyping of the disease. 30611755 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 Biomarker disease BEFREE Anti-CEP-1 antibodies are detectable in over 40% of RA patients and are associated with erosive RA and with RA-associated interstitial lung disease (ILD). 29452423 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 Biomarker disease BEFREE Increased anti-CEP-1 antibody titers were detected in nine out of the 15 (60%) ACPA+ pSS patients and 5 out of 12 (41.7%) ACPA+ RA patients; no reactivities were detected in ACPA- pSS patients and HC. 28919520 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 Biomarker disease BEFREE Levels of antibodies to CEP-1, cFIBβ, and cVIM correlated with each other, and with smoking and shared epitope risk factors in RA. 29084415 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 GeneticVariation disease BEFREE Data from North European rheumatoid arthritis (RA) populations has suggested a particularly strong association of gene-environment interaction between smoking and HLA-DRB1 shared epitope (SE) with antibodies to citrullinated α-enolase (CEP-1) and vimentin (cVim) peptides. 23505239 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 Biomarker disease BEFREE Altogether, 44·2, 86·1 and 13·9% of RA sera were positive for anti-CEP-1, -CCP and -GPI protein antibodies, respectively. 23480184 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 Biomarker disease BEFREE The fact that arthritis and anti-CEP-1 antibodies were induced independent of citrullination of the immunizing antigen suggests that the unmodified form of α-enolase may be important in initiating the corresponding subset of human RA. 21953289 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.090 Biomarker disease BEFREE Anti-CEP-1 and anti-CCP antibodies were observed in 26.8% and 71.2% of the patients with RA, respectively. 21360494 2011
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.050 Biomarker disease BEFREE Screening of drugs to treat 8p11 myeloproliferative syndrome using patient-derived induced pluripotent stem cells with fusion gene CEP110-FGFR1. 25803811 2015
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.050 GeneticVariation disease BEFREE We report a rare case of t(8;9)(p11;q33) in a patient with 8p11 myeloproliferative syndrome (EMS) that was preceded by centrosomal protein 110kDa (CEP110; previously CEP1)/fibroblast growth factor receptor 1 (FGFR1) fusion transcript. 18295660 2008
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.050 Biomarker disease BEFREE A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene. 16879608 2006
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.050 GeneticVariation disease BEFREE To date, four gene fusions associated with distinct translocations have been described in EMS: the t(8;13)(p11;q12), t(8;9)(p11;q33), t(6;8)(q27;p11) and t(8;22)(p11q22) fuse ZNF198, CEP110, FOP and BCR, respectively, to FGFR1. 11919391 2002
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
0.050 GeneticVariation disease BEFREE The 8p11 myeloproliferative syndrome (EMS) is associated with three translocations, t(8;13)(p11;q12), t(8;9)(p11;q33), and t(6;8)(q27;p11), that fuse unrelated genes (ZNF198, CEP110, and FOP, respectively) to the entire tyrosine kinase domain of FGFR1. 11550283 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.030 GeneticVariation group BEFREE Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature. 18096225 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.030 GeneticVariation group BEFREE NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder. 15087377 2004
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.030 GeneticVariation group BEFREE FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). 10688839 2000
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
0.020 Biomarker disease BEFREE A-CEP-1 were positive in 77% of RF(+) RA patients, in 56% of RF(-) RA patients, in 8.7% of UA patients, but they were negative in controls. 30406565 2019
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.020 Biomarker group BEFREE Significant associations were identified between anti-CEP-1 and joint erosions at anti-CEP-1 value of >124.78 U/ml (p = .0026) and between anti-CEP-1 and ILD at anti-CEP-1 value of >185.91 U/ml (p = .0222). 30611755 2019
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
0.020 Biomarker disease BEFREE Anti-CEP-1 antibodies are detectable in over 40% of RA patients and are associated with erosive RA and with RA-associated interstitial lung disease (ILD). 29452423 2018
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.020 Biomarker group BEFREE Anti-CEP-1 antibodies may represent a useful biomarker for RA-associated ILD and erosive disease to be employed in clinical practice. 29452423 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Dysregulated signaling pathways in the development of CNTRL-FGFR1-induced myeloid and lymphoid malignancies associated with FGFR1 in human and mouse models. 23777766 2013