PCNA, proliferating cell nuclear antigen, 5111

N. diseases: 581; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.050 GeneticVariation disease BEFREE After adjustment for age and smoking, the PCNA-6084C variant was significantly associated with an increased risk of bladder cancer [CC + CG versus GG, odds ratio (OR), 1.61; 95% confidence interval (95% CI), 1.00-2.61], as well as the XRCC1-26651G variant (GG+AG versus AA: OR, 1.73; 95% CI, 1.17-2.56). 16284380 2005
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.050 GeneticVariation disease BEFREE Cyclin D1 (CCND1), v‑akt murine thymoma viral oncogene homolog 2 (AKT2), cyclin‑dependent kinase 6 (CDK6) and SMAD family member 2 (SMAD2) were involved in the pathway of pancreatic cancer. 27840954 2016
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.050 GeneticVariation disease BEFREE However, the expressions of c-Fos and PCNA were elevated in BRAF(V600E)-positive PTC compared with those in BRAF(V600E)-negative PTC. 22535643 2012
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.050 GeneticVariation disease BEFREE The intronic SNP rs2296675 in MGMT was associated with an increased PTC risk [per minor allele odds ratio (OR) 2.54 95% CI 1.50, 4.30, P <sub>per allele</sub> = 0.0006, P <sub>corr.=</sub> 0.05], and gene-wide association testing highlighted a possible role for ERCC5 (P <sub>Gene</sub> = 0.01) and PCNA (P <sub>Gene</sub> = 0.05) in addition to MGMT (P <sub>Gene</sub> = 0.008). 28499365 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.050 GeneticVariation disease BEFREE Cyclin D1 (CCND1), v‑akt murine thymoma viral oncogene homolog 2 (AKT2), cyclin‑dependent kinase 6 (CDK6) and SMAD family member 2 (SMAD2) were involved in the pathway of pancreatic cancer. 27840954 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.040 GeneticVariation disease BEFREE Histone mRNA in-situ hybridization in astrocytomas: a comparison with PCNA, MIB-1 and mitoses in paraffin-embedded material. 9522215 1998
CUI: C0025286
Disease: Meningioma
Meningioma 		0.030 GeneticVariation disease BEFREE Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). 20150366 2010
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.030 GeneticVariation disease BEFREE We analyzed 13 polymorphisms in seven DNA repair genes belonging to different repair pathways [X-ray repair cross-complementing group 1 (XRCC1): 26304C>T, 26651A>G, 28152A>G; xeroderma pigmentosum-D (XPD): 23591A>G, 35931A>C; excision repair complementing defective in Chinese hamster, group 1 (ERCC1): 19007C>T; XRCC3: 4541T>C, 17893A>G, 18067C>T; proliferating cell nuclear antigen (PCNA): 6084G>C; ERCC4: 30028C>T, 30147A>G; and XRCC2-31479A>G] in 317 incident bladder cancer patients and 317 controls. 16284380 2005
CUI: C1846009
Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		0.030 GeneticVariation disease BEFREE Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 22634751 2012
CUI: C1846009
Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		0.030 GeneticVariation disease BEFREE However, loss of PCNA binding and suppression of CDKN1C monoubiquitination by IMAGe-associated mutations hardly explain the reduced-growth phenotype characteristic of IMAGe syndrome. 24098681 2013
CUI: C1846009
Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 		0.030 GeneticVariation disease BEFREE With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome or Silver-Russell syndrome (SRS), its key role for growth has been confirmed. 25262539 2014
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.020 GeneticVariation disease BEFREE In this study, 32 pleomorphic adenomas (PAs) and seven adenoid cystic carcinomas (ACCs) were analysed for the evaluation of proliferating cell nuclear antigen (PCNA) indices and flow cytometric variables. 8652744 1996
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.020 GeneticVariation disease BEFREE The rest changed greatly in the methylation pattern in colorectal cancer (CRC): cyclin A1 (cyclin a1) (100%, 65/65), caudal type homeobox transcription factor 1 (CDX1) (100%, 65/65), RAR- (85%, 55/65), myogenic factor 3 (MYOD1) (69%, 45/65), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (p15(INK4b)) (68%, 44/65), prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (COX2) (72%, 47/65), cadherin 13, H-cadherin (heart) (CDH13) (65%, 42/65), CAAX box 1 (CXX1) (58%, 38/65), tumor protein p73 (p73) (63%, 41/65) and Wilms tumor 1 (WT1) (58%, 38/65). 15526363 2004
CUI: C0028879
Disease: Odontogenic Cysts
Odontogenic Cysts 		0.020 GeneticVariation disease BEFREE Nerve sparing enucleation and curettage was employed for the established cases of Odontogenic Cysts; Enucleation and curettage, peripheral ostectomy, followed by chemical cauterization was employed for the Unicystic Ameloblastomas and other Odontogenic tumours with a low Ki-67 and PCNA Proliferation Index (PI)/Labelling index (LI ≤ 3); Marginal resection was carried out for the tumours with a higher Labelling Index (LI >3 ≤5), and Segmental resection (including partial/complete Maxillectomy, Hemimandibulectomy with/without disarticulation) for the aggressive pathologies with high Labelling Index (LI > 5). 31077874 2019
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma 		0.020 GeneticVariation disease BEFREE Increased mitogenic signaling through activation of the mTOR pathway, coupled with deregulation of the Cyclin D/retinoblastoma (Rb) pathway is a common feature of lymphoid malignancies, including plasmacytoma (PCT), multiple myeloma (MM), Burkitt's lymphoma (BL), and mantle cell lymphoma (MCL). 24429254 2014
CUI: C0033375
Disease: Prolactinoma
Prolactinoma 		0.020 GeneticVariation disease BEFREE Effect of cyclin [corrected] D1 (CCND1) gene polymorphism on tumor formation and behavior in patients with prolactinoma. 22967707 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.020 GeneticVariation disease BEFREE With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome or Silver-Russell syndrome (SRS), its key role for growth has been confirmed. 25262539 2014
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.020 GeneticVariation disease BEFREE CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. 24065356 2013
CUI: C0240164
Disease: Squamous Papilloma of the Larynx
Squamous Papilloma of the Larynx 		0.020 GeneticVariation disease BEFREE Expression of the the cyclin-kinase inhibitors p21(WAF1) and p27(Kip1) and the p53 tumor suppressor genes in adult-onset laryngeal papillomas. 12434183 2002
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.020 GeneticVariation disease BEFREE Current investigation approaches in advanced stages of clinical development include immunoconjugates, immune checkpoint blockade, novel cyclin-dependent-kinase inhibitors, and PARP inhibitors for MBC associated with germline BRCA mutations. 29171761 2017
CUI: C1368683
Disease: Epithelioma
Epithelioma 		0.020 GeneticVariation disease BEFREE p53 alteration, proliferating cell nuclear antigen, and nucleolar organizer regions in thymic epithelial tumors. 9852302 1998
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		0.020 GeneticVariation disease BEFREE Increased mitogenic signaling through activation of the mTOR pathway, coupled with deregulation of the Cyclin D/retinoblastoma (Rb) pathway is a common feature of lymphoid malignancies, including plasmacytoma (PCT), multiple myeloma (MM), Burkitt's lymphoma (BL), and mantle cell lymphoma (MCL). 24429254 2014
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.010 GeneticVariation group BEFREE A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1). 7896286 1994
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.010 GeneticVariation phenotype BEFREE In contrast to upregulation in non-diapause eggs, Cyclin D (another cell cycle regulator) and hunchback, Krüppel, and runt (gap and pair-rule genes) were downregulated in diapause eggs. 30287269 2018
CUI: C0023486
Disease: Prolymphocytic Leukemia
Prolymphocytic Leukemia 		0.010 GeneticVariation disease BEFREE Measurable decreases of cyclin-D<sub>1</sub> were observed through PLL treatments, an indicator of cell-cycle arrest. 29710523 2018