DCTN4, dynactin subunit 4, 51164

N. diseases: 253; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.110 Biomarker group HPO
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.110 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		0.100 Biomarker disease HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		0.100 Biomarker disease HPO
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.100 Biomarker phenotype HPO
CUI: C3850141
Disease: Acute-On-Chronic Liver Failure
Acute-On-Chronic Liver Failure 		0.020 AlteredExpression disease BEFREE <b>Results:</b> Compared with the normal liver tissue, the expressions of Mfn2, Atg5, Beclin1, and LC3-II/I were significantly decreased and the expression of P62 was much higher in patients with ACLF. 31231215 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE <i>Apc<sup>Min/+</sup></i> mice when infected with CR and <i>BLT1<sup>-/-</sup>;Apc<sup>Min/+</sup></i> mice, exhibited similar co-localization of p62 with LC3B and Dclk1 within the tumors. 31040926 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.030 Biomarker disease BEFREE <i>COX-2</i> expression was up-regulated by UVA-induced p62, suggesting that p62 plays a role in UVA-induced skin cancer. 28724634 2017
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.030 Biomarker disease BEFREE (2) In normal cultured human muscle fibers, experimental inhibition of either proteasomal or lysosomal protein degradation caused substantial increase of p62, suggesting that similar in vivo mechanisms might contribute to the p62 increase in s-IBM muscle fibers. 19557423 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.040 AlteredExpression disease BEFREE 6-OHDA treatment failed to suppress mTOR/S6K phosphorylation and to increase LC3 conversion, p62 degradation and cytoplasmatic acidification in neuroblastoma cells in which AMPK expression was downregulated by RNA interference. 22917563 2012
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 AlteredExpression disease BEFREE 6-OHDA treatment failed to suppress mTOR/S6K phosphorylation and to increase LC3 conversion, p62 degradation and cytoplasmatic acidification in neuroblastoma cells in which AMPK expression was downregulated by RNA interference. 22917563 2012
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.040 AlteredExpression disease BEFREE 6-OHDA treatment failed to suppress mTOR/S6K phosphorylation and to increase LC3 conversion, p62 degradation and cytoplasmatic acidification in neuroblastoma cells in which AMPK expression was downregulated by RNA interference. 22917563 2012
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		0.070 Biomarker disease BEFREE Frontotemporal lobar degeneration (FTLD) and motor neurone disease are linked by the possession of a hexanucleotide repeat expansion in C9ORF72, and both show neuronal cytoplasmic inclusions within cerebellar and hippocampal neurones which are TDP-43 negative but immunoreactive for p62 and dipeptide repeat proteins (DPR), these being generated by a non-ATG RAN translation of the expanded region of the gene. 25185840 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.100 AlteredExpression disease BEFREE HCC involving HBV infection and AFB1 exposure is associated with relatively high risk of tumor recurrence, and this poor prognosis may relate to high P62 expression. 28941211 2017
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 Biomarker group BEFREE Caffeine induced autophagy as shown by increased p62 and LC3Ⅱ accumulation and the number of GFP/RFP-LC3 puncta and autophagosomes/autolysosomes. 28949381 2017
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma 		0.010 Biomarker disease BEFREE Metastatic prostate cancer-associated P62 inhibits autophagy flux and promotes epithelial to mesenchymal transition by sustaining the level of HDAC6. 29383752 2018
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		0.010 Biomarker disease BEFREE Metastatic prostate cancer-associated P62 inhibits autophagy flux and promotes epithelial to mesenchymal transition by sustaining the level of HDAC6. 29383752 2018
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.010 AlteredExpression disease BEFREE RS significantly inhibited the expression of LC3-II but increased the protein expression of p62. 31342626 2019
CUI: C0854135
Disease: Pseudomonas aeruginosa infection
Pseudomonas aeruginosa infection 		0.320 Biomarker disease BEFREE DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 25763772 2016
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 GeneticVariation disease BEFREE DCTN4 variants were identified in 24% (29/121) CF patients with Pa infection and in only 17% (3/18) CF patients with no Pa infection. 25763772 2016