CENPC, centromere protein C, 1060

N. diseases: 16; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.100 GeneticVariation disease GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 2019
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.020 Biomarker disease BEFREE Autoantibody reactivity to centromere proteins CENP-A, CENP-B and CENP-C was examined in 58 patients with systemic sclerosis (SSc), 218 first degree relatives and 22 spouses. 8187334 1994
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.020 Biomarker disease BEFREE CENP-C, an autoantigen in scleroderma, is a component of the human inner kinetochore plate. 1339310 1992
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 AlteredExpression disease BEFREE During the acute phase of MI, the gene expression of Mif was upregulated in the infarct zone, whereas Mif-2 was downregulated, suggesting a minor role of MIF-2. 30678084 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 GeneticVariation phenotype BEFREE These constructs antagonize the cognate TCR and bind with high affinity to their cell-bound CD74 receptor on macrophages and dendritic cells, thereby competitively inhibiting downstream signaling and pro-inflammatory effects of macrophage migration inhibitory factor (MIF) and its homolog, D-dopachrome tautomerase (D-DT=MIF-2) that bind to identical residues of CD74 leading to progressive disease. 30683115 2019
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 GeneticVariation disease BEFREE These constructs antagonize the cognate TCR and bind with high affinity to their cell-bound CD74 receptor on macrophages and dendritic cells, thereby competitively inhibiting downstream signaling and pro-inflammatory effects of macrophage migration inhibitory factor (MIF) and its homolog, D-dopachrome tautomerase (D-DT=MIF-2) that bind to identical residues of CD74 leading to progressive disease. 30683115 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 AlteredExpression group BEFREE Expert opinion: Knowledge of MIF, MIF-2 and their receptor pathways are under active investigation in different types of cardiovascular diseases, and novel therapeutic opportunities are being identified. 28562118 2017
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.010 Biomarker disease BEFREE These results indicate that MIF-2/D-DT is an important factor in tubular cell regeneration and may be of therapeutic utility as a regenerative agent in the clinical setting of ischemic acute kidney injury. 28539339 2017
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.010 Biomarker disease BEFREE Based on the result that reactivities against CENP-C and HP1α in patients with pSS differ from those in patients with SSc, we propose ACA-positive pSS as a clinical subset of SS that is independent of SSc. 27161330 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 Biomarker group BEFREE MIF-2 levels in ICU patients correlated with biomarkers reflecting organ damage, but were not influenced by acute or chronic kidney disease. 28329734 2017
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis 		0.010 Biomarker disease BEFREE Circulating MIF-2 has been described to be elevated in patients suffering from sepsis, severe burn injury and after surgery. 28329734 2017
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 GeneticVariation disease BEFREE The activated c-myc allele in Burkitt's lymphoma is associated with a clustering of somatic mutations within a discrete domain of intron I that define protein recognition sequences, designated as myc intron factors (MIF-1, MIF-2 and MIF-3). 10828444 2000
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		0.010 GeneticVariation disease BEFREE The activated c-myc allele in Burkitt's lymphoma is associated with a clustering of somatic mutations within a discrete domain of intron I that define protein recognition sequences, designated as myc intron factors (MIF-1, MIF-2 and MIF-3). 10828444 2000
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		0.010 GeneticVariation disease BEFREE The activated c-myc allele in Burkitt's lymphoma is associated with a clustering of somatic mutations within a discrete domain of intron I that define protein recognition sequences, designated as myc intron factors (MIF-1, MIF-2 and MIF-3). 10828444 2000
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma 		0.010 Biomarker disease BEFREE Centromere protein C, previously shown to be present only in functional kinetochores, was invariably detected at the constriction of the marker in OSA, while one-fifth of markers in ALT appeared to exhibit additional centromere protein C-positive regions outside the primary constriction, indicating that the observed chromosomal instability in ALT might, at least in part, be a consequence of the occasional formation of more than one functional kinetochore. 10525963 1999
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.010 Biomarker disease BEFREE CENP-C, an autoantigen in scleroderma, is a component of the human inner kinetochore plate. 1339310 1992