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: C4014676
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 		0.600 CausalMutation disease CLINVAR
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		0.300 Biomarker disease CTD_human
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		0.100 Biomarker disease HPO
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		0.010 Biomarker disease BEFREE <b>Abbreviations</b>: ACTB: actin, beta; CCND3: cyclin 3; CDK6: cyclin-dependent kinase 6; CHQ: chloroquine; COL4A1: collagen, type IV, alpha 1; CRYBA1: crystallin, beta A1; DAPI: 4'6-diamino-2-phenylindole; EGFR: epidermal growth factor receptor; GAPDH: glyceraldehyde-3-phosphate dehydrogenase; GFAP: glial fibrillary growth factor; KDR: kinase insert domain protein receptor; MAP1LC3/LC3: microtubule-associated protein 1 light chain 3; MKI67: antigen identified by monoclonal antibody Ki 67; MTORC1: mechanistic target of rapamycin kinase complex 1; PARP: poly (ADP-ribose) polymerase family; PCNA: proliferating cell nuclear antigen; PFV: persistent fetal vasculature; PHPV: persistent hyperplastic primary vitreous; RPE: retinal pigmented epithelium; RPS6: ribosomal protein S6; RPS6KB1: ribosomal protein S6 kinase, polypeptide 1; SQSTM1/p62: sequestome 1; TUBB: tubulin, beta; VCL: vinculin; VEGFA: vascular endothelial growth factor A; WT: wild type. 31462148 2019
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		0.030 Biomarker disease BEFREE <b>Methods</b>: We investigated the roles of lncRNA PCNAP1 in contribution of HBV replication through modulating miR-154/PCNA/HBV cccDNA signaling in hepatocarcinogenesis by using CRISPR/Cas9, Southern blot analysis, confocal assays, <i>et al.</i> in primary human hepatocytes (PHH), HepaRG cells, HepG2-NTCP cells, hepatoma carcinoma cells, human liver-chimeric mice model, transgenetic mice model, <i>in vitro</i> tumorigenicity and clinical patients. 31410212 2019
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		0.020 AlteredExpression disease BEFREE <b>Methods:</b> The levels of HDAC4 and PCNA mRNA and protein were tested in human OS and osteochondroma (OC) tissues. 31552187 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.020 Biomarker disease BEFREE <b>Purpose</b>: This study aims to determine the expression patterns of terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), proliferating cell nuclear antigen (PCNA) and SOX2 in lens epithelial cells (LEC) of cataract patients with pseudoexfoliation syndrome (PEX), and to determine the effect of apoptosis, proliferative activity and stem/progenitor cells on cataract formation in patients with PEX. 31424957 2020
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.010 Biomarker disease BEFREE <b>Purpose</b>: This study aims to determine the expression patterns of terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), proliferating cell nuclear antigen (PCNA) and SOX2 in lens epithelial cells (LEC) of cataract patients with pseudoexfoliation syndrome (PEX), and to determine the effect of apoptosis, proliferative activity and stem/progenitor cells on cataract formation in patients with PEX. 31424957 2020
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.100 Biomarker disease BEFREE <b>Results:</b> The results showed that both HDAC4 and PCNA were increased in human OS tissues. 31552187 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.100 Biomarker disease BEFREE <b>Results:</b> The results showed that both HDAC4 and PCNA were increased in human OS tissues. 31552187 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.100 Biomarker disease BEFREE <b>Results:</b> The results showed that both HDAC4 and PCNA were increased in human OS tissues. 31552187 2019