NUP62, nucleoporin 62, 23636

N. diseases: 273; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 GeneticVariation disease BEFREE Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 16786527 2006
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 Biomarker disease GENOMICS_ENGLAND Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 16786527 2006
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 GeneticVariation disease UNIPROT Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 16786527 2006
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 Biomarker disease GENOMICS_ENGLAND Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 16786527 2006
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 Biomarker disease GENOMICS_ENGLAND Infantile bilateral striatal necrosis maps to chromosome 19q. 14718703 2004
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 Biomarker disease GENOMICS_ENGLAND Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. 12374138 2002
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 CausalMutation disease CLINVAR
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 Biomarker disease CTD_human
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 GermlineCausalMutation disease ORPHANET
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group GENOMICS_ENGLAND Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 16786527 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group HPO
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE The following clusters were found in the dendrogram: Nrf2 and p21 with ATP5B and GADPH in all the tissues and with NRF1 in all except the tumor tissues with metastasis; Bach1 with ATP5B and GAPDH in the tumor tissues; Keap1 with p62 in all the tissues, with LC3 in the tumor tissues and with NRF1 and HO1 in the tumor tissues with metastasis. 31796664 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Mechanistically, the Lmdd-MPFG vaccine activates the NF-κB pathway in the tumor-associated macrophages (TAMs) through the TLR2 and MyD88 pathway, and recruits p62 to activate the autophagy pathway. 31659256 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE The integrative approach uncovered novel miRNA-gene networks (e.g., miR-146 and miR-34 regulating p62 and Beclin1 in autophagy) that might give new insights into the complex regulatory mechanisms of gene expression in AD and cancer. 31608105 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE Our results suggest a difference in HR23B aggregation and co-localization pattern with DPRs, pTDP-43 and p62 between different brain areas from C9FTD/ALS cases. 30867060 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE Previously, two ALS-FTLD-associated p62 mutant proteins within the Keap1 interacting region (KIR) of p62 were found to be associated with decreased Keap1-p62 binding and Nrf2 activation. 30954537 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Co-localization of autophagy-related protein p62 with cancer stem cell marker dclk1 may hamper dclk1's elimination during colon cancer development and progression. 31040926 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE The role of p62 in cancer is controversial. 30793399 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE The integrative approach uncovered novel miRNA-gene networks (e.g., miR-146 and miR-34 regulating p62 and Beclin1 in autophagy) that might give new insights into the complex regulatory mechanisms of gene expression in AD and cancer. 31608105 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE p62 was significantly upregulated in CRC, and a high p62 level was an independent risk factor for a poor prognosis in CRC patients. p62 promoted CRC migration and invasion by inhibiting apoptosis and promoting cell proliferation in vitro, and p62 aggravated tumour growth and metastasis in vivo. 30793399 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE Furthermore, upregulation of GLDC could significantly decrease p62 expression and impair intrahepatic metastasis in vivo. 30804330 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Moreover, p62 can easily promote tumor metastasis. 31698589 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE In immunohistochemical analysis, AGG-treated tumor displays higher caspase 3 expression and less p62 and NRF2 expression in comparison to the control. 31715238 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Here we investigated some mechanistic aspects of these effects.In mammary tumors bearing-dogs, i.m. injections of p62 plasmid reduced tumor sizes and their aggressive potential in 5 out of 6 animals, with one carcinoma switching to adenoma. 31754084 2019