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: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
0.010 Biomarker disease BEFREE CEP-1 is a major antigenic target of ACPA in patients with pSS characterizing a subgroup with distinct laboratory features. 28919520 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 AlteredExpression disease BEFREE Molecular genetic analyses of these model mice, as well as primary human disease, demonstrated that CNTRL-FGFR1, through abnormal activation of several signaling pathways related to development and differentiation of both myeloid and T-lymphoid cells, contribute to overt leukemogenesis. 23777766 2013
CUI: C1292753
Disease: Primary Effusion Lymphoma
Primary Effusion Lymphoma
0.010 Biomarker disease BEFREE An methylthiotetrazole assay revealed that the cell proliferation of PEL cell lines was significantly suppressed by the addition of CEP (1-10 microg/ml). 19521981 2009
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.010 GeneticVariation disease BEFREE To explore the molecular cytogenetic abnormalities in Chinese patients with PCL, interphase FISH studies with three probes for the regions containing 13q14.3 (D13S319), 14q32 (IGHC/IGHV) and 1q12(CEP1) were retrospectively performed in 21 PCL patients. 18284415 2009
Chromosome 11p11.2 Deletion Syndrome
0.010 Biomarker disease BEFREE Our aim is to determine the prevalence of anti-CEP-1 in a cohort of ACPA positive (ACPA+) primary Sjogren's syndrome (pSS) patients. 28919520 2017
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME
0.010 Biomarker disease BEFREE Our aim is to determine the prevalence of anti-CEP-1 in a cohort of ACPA positive (ACPA+) primary Sjogren's syndrome (pSS) patients. 28919520 2017
CUI: C3899281
Disease: Early Inflammatory Arthritis
Early Inflammatory Arthritis
0.010 Biomarker disease BEFREE Our results suggest that a-CEP-1 may help in differentiation between RF(-) RA and UA. a-CEP-1 and a-Sa may be useful while diagnosing EIA. a-CarP may be used in differentiation of RA RF(-) and UA. 30406565 2019
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE In B16 mouse melanoma cells, FAN was downregulated and the impact on FAN on cell motility and invasion was determined using in vitro assays and in vivo animal models. 23674089 2013
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 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: 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: 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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Based on our recent findings that the TNF receptor adaptor protein FAN mediates TNF-induced actin reorganisation and regulates the directed migration of immune cells responding to chemotactic cues, we addressed the role of FAN in cancer cell motility and the formation of invadopodia, a crucial feature in tumour invasion. 23674089 2013
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: 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 GeneticVariation group BEFREE Antibodies to citrullinated proteins are associated with HLA 'shared epitope' alleles, and autoimmunity to at least one antigenic sequence, the CEP-1 peptide from citrullinated alpha-enolase (KIHAcitEIFDScitGNPTVE), shows a specific association with HLA-DRB1*0401, *0404, 620W PTPN22, and smoking. 20192991 2010
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 GeneticVariation group BEFREE To explore the molecular cytogenetic abnormalities in Chinese patients with PCL, interphase FISH studies with three probes for the regions containing 13q14.3 (D13S319), 14q32 (IGHC/IGHV) and 1q12(CEP1) were retrospectively performed in 21 PCL patients. 18284415 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE The results of our study suggest that FAN through promoting melanoma cellular motility and tumour invasiveness is critical for the tumour-promoting action of TNF. 23674089 2013
CUI: C0149725
Disease: Lower respiratory tract infection
Lower respiratory tract infection
0.010 Biomarker group BEFREE NGAL, rather than CEP-1, may be appealing adjuncts for diagnosis of LRTIs. 31672649 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Based on our recent findings that the TNF receptor adaptor protein FAN mediates TNF-induced actin reorganisation and regulates the directed migration of immune cells responding to chemotactic cues, we addressed the role of FAN in cancer cell motility and the formation of invadopodia, a crucial feature in tumour invasion. 23674089 2013
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder
0.010 GeneticVariation group BEFREE 8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. 18295660 2008