PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.100 Biomarker phenotype HPO
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.100 Biomarker group HPO
CUI: C4025699
Disease: Abnormality of the stomach
Abnormality of the stomach 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group LHGDN The bizarre glands in adenoma might be precancerous lesions since the expression of plectin in them was identical to that of adenocarcinoma but in contrast to that of normal glands. 18084872 2004
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 Biomarker disease BEFREE Our studies show both genotypic and phenotypic correlations between plectin and lung CSCs, as well as association of high plectin mRNA expression with poor patient survival in lung adenocarcinoma, potentially identifying plectin as a biomarker for lung CSCs. 31628412 2019
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 AlteredExpression group LHGDN The bizarre glands in adenoma might be precancerous lesions since the expression of plectin in them was identical to that of adenocarcinoma but in contrast to that of normal glands. 18084872 2004
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Herein, we report that a monoclonal antibody against plectin (a cytoskeletal protein linker) recognizes on Western blots of U-373 MG glioblastoma cells, a 300-kDa band corresponding to plectin and two bands of 86 and 70 kDa. cDNA cloning and Northern blotting reveals that these two bands represent isoforms of RHAMM/IHABP. 12222834 2002
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 Biomarker disease BEFREE Plectin deficiency in liver cancer cells promotes cell migration and sensitivity to sorafenib treatment. 28276928 2018
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.010 Biomarker disease BEFREE In search of a cell line in which the D3 dopamine receptor is expressed endogenously, we found that the neuron-derived human medulloblastoma cell line TE671 expresses the human D3 (hD3) and D1 (hD1) receptor, but neither the D2 or D4 receptors. 9849894 1998
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.010 GeneticVariation disease BEFREE GFAP with the most common AxD mutation, R239C (RC GFAP), mainly formed abnormal aggregates in human primary astrocytes and murine plectin-deficient fibroblasts. 16507904 2006
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 Biomarker disease BEFREE The combined proteomic analysis allowed the detection of regulated proteins linked to ALS pathogenesis (RNA-binding protein FUS, superoxide dismutase Cu-Zn and neurofilaments light polypeptide) alongside newly identified candidate biomarkers (myosin-9, fructose-bisphosphate aldolase and plectin). 30872628 2019
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.100 Biomarker disease HPO
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.040 Biomarker disease BEFREE Triple combinations of the techniques; cytology, K-ras gene mutation analysis, Plectin-1 staining could increase accuracy in diagnosis of PDACs. 28969083 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.040 Biomarker disease BEFREE It is now clear that this PDAC biomarker plays a role in PDAC, and further understanding of plectin's contribution to PDAC could enable improved therapies. 24218614 2013
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.040 AlteredExpression disease BEFREE Plectin-1 is known to be aberrantly expressed in the surface of pancreatic ductal adenocarcinoma (PDAC) cells while showing cytoplasmic expression in normal cells. 28991294 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.040 Biomarker disease BEFREE In this study, we developed a new chimeric peptide (PL-1) composed of plectin-1-targeted PDAC-specific and arginine-rich RNA-binding motifs which could condense miRNA to self-assemble supramolecular nanoparticles. 30553134 2019
CUI: C0003537
Disease: Aphasia
Aphasia 		0.100 Biomarker disease HPO
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.410 Biomarker disease HPO
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.410 GermlineCausalMutation disease ORPHANET We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. 31184804 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.410 Biomarker disease BEFREE We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. 31184804 2019
CUI: C4023812
Disease: Aplasia of the bladder
Aplasia of the bladder 		0.100 Biomarker phenotype HPO
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.010 GeneticVariation disease BEFREE Nor did we find a difference in the prevalence of rare PLEC variants in ARVC patients with or without a desmosomal likely pathogenic/pathogenic variant (14% versus 8%, respectively). 30161220 2018