ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.010 AlteredExpression phenotype BEFREE We used genetic manipulations and pharmacology to inhibit MNK-eIF4E activity in animals with spared nerve injury, a model of peripheral nerve injury (PNI)-induced neuropathic pain. 31590180 2020
CUI: C0030193
Disease: Pain
Pain
0.010 Biomarker phenotype BEFREE WT neuropathic animals showed signs of spontaneous pain and were significantly impaired in the rule-shifting task while genetic and pharmacological inhibition of the MNK-eIF4E signaling axis protected against and reversed spontaneous pain and PNI-mediated cognitive impairment. 31590180 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.010 Biomarker disease BEFREE WT neuropathic animals showed signs of spontaneous pain and were significantly impaired in the rule-shifting task while genetic and pharmacological inhibition of the MNK-eIF4E signaling axis protected against and reversed spontaneous pain and PNI-mediated cognitive impairment. 31590180 2020
CUI: C0840564
Disease: Rupture of bladder
Rupture of bladder
0.010 GeneticVariation disease BEFREE Menkes disease, or Kinky Hair Syndrome, is a rare disorder of copper metabolism that causes fatal neurodegenerative disease in infancy.<sup>1</sup><sup>,</sup><sup>2</sup> This X-linked disorder results from mutations in the ATP7A gene.<sup>2</sup> Along with neurological decline, characteristic coarse appearance of the hair is seen.<sup>1</sup><sup>,</sup><sup>2</sup> Urological issues are prevalent in this patient population, with bladder diverticula being the most common.<sup>3</sup><sup>,</sup><sup>4</sup> Herein, we describe a unique male patient with genetic mosaicism and osseous metaplasia found in a ruptured bladder diverticulum. 31758979 2020
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 Biomarker disease BEFREE Consistently, we found that MNK kinase inhibitor is effective in inhibiting proliferation and migration, and inducing apoptosis in cervical cancer but not normal cervical cells. 31327462 2019
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
0.010 GeneticVariation group BEFREE Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. 31336972 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.010 Biomarker disease BEFREE IMPLICATIONS: These findings raise the possibility of a unique therapeutic approach for medulloblastoma, involving MNK targeting to sensitize medulloblastoma CSCs to PI3Kα inhibition. 30842251 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.010 Biomarker disease BEFREE IMPLICATIONS: These findings raise the possibility of a unique therapeutic approach for medulloblastoma, involving MNK targeting to sensitize medulloblastoma CSCs to PI3Kα inhibition. 30842251 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.010 Biomarker disease BEFREE IMPLICATIONS: These findings raise the possibility of a unique therapeutic approach for medulloblastoma, involving MNK targeting to sensitize medulloblastoma CSCs to PI3Kα inhibition. 30842251 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.010 AlteredExpression phenotype BEFREE Furthermore, ATP7A/B activity and trafficking allow tumor cells to detoxify platinum (Pt)-based drugs (like cisplatin), which are used for the chemotherapy of different solid tumors. 31540259 2019
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome
0.010 GeneticVariation disease BEFREE Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs. 31062085 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 Biomarker disease BEFREE Consistently, we found that MNK kinase inhibitor is effective in inhibiting proliferation and migration, and inducing apoptosis in cervical cancer but not normal cervical cells. 31327462 2019
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
0.010 Biomarker disease BEFREE Functional characterization of fibroblasts derived from affected individuals closely resembles the abnormal ATP7A trafficking described in MEDNIK syndrome both at baseline and in response to copper treatment. 31630791 2019
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM
0.010 Biomarker disease BEFREE Combine the results of GO and KEGG enrichment analysis of differences proteins between high and low neuroticism with the PPI network, it could be observed that the Alpha-synuclein (SNCA), ATP7A protein (ATP7A), Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 (GNG2), cyclin-dependent kinase 6 (CDK6), myeloperoxidase (MPO), azurocidin (AZU1), Histone H2B type 1-H (HIST1H2BH), Integrin alpha-M (ITGAM) and Matrix metalloproteinase-9 (MMP9) might participate in the intrinsic mechanism of neuroticism by regulating response to catecholamine stimulus, catecholamine metabolic process, limbic system development and transcriptional misregulation in cancer pathway. 31719821 2019
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.010 Biomarker disease BEFREE Consistently, we found that MNK kinase inhibitor is effective in inhibiting proliferation and migration, and inducing apoptosis in cervical cancer but not normal cervical cells. 31327462 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.010 Biomarker disease BEFREE Given that another Charcot-Marie-Tooth disease gene, ATP7A, is a known copper transporter, our findings further underline the relevance of copper metabolism in Charcot-Marie-Tooth disease. 29351582 2018
Diabetes Mellitus, Insulin-Dependent
0.010 AlteredExpression disease BEFREE We reported that ATP7A protein expression and SOD3 activity are decreased in insulin-deficient type 1 diabetes mellitus vessels, thereby, inducing superoxide-mediated endothelial dysfunction, which are rescued by insulin treatment. 29301787 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.010 Biomarker disease BEFREE Akt2 (Protein Kinase B Beta) Stabilizes ATP7A, a Copper Transporter for Extracellular Superoxide Dismutase, in Vascular Smooth Muscle: Novel Mechanism to Limit Endothelial Dysfunction in Type 2 Diabetes Mellitus. 29301787 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 Biomarker disease BEFREE Screening of the ferrocene analogues showed that both exhibited potent anticancer effects in several breast cancer and AML (acute myeloid leukemia) cell lines, despite a loss of MNK potency. 30142961 2018
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration
0.010 Biomarker disease BEFREE No MC was found in DD grade A, and MC III was not observed in DD grade B. MC I was found to significantly increase angular motion in the DD grade E group, and MC II could enlarge translational motion in the DD grade D group (all P < 0.05); MC III had the lowest segmental motion in both angular and translational motion; There was no statistical difference in angular and translational motion between MC I and II in all DD grade groups (all P > 0.05). 29572167 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 Biomarker phenotype BEFREE In our review, we highlight the roles of ATP7A/7B in platinum drug resistance and cancer progression. 29394468 2018
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.010 AlteredExpression phenotype BEFREE Akt2 plays a critical role in ATP7A protein stabilization and translocation to plasma membrane in VSMCs, which contributes to full activation of vascular SOD3 that protects against endothelial dysfunction in T2DM. 29301787 2018
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.010 Biomarker disease BEFREE The retinamide VNLG-152 inhibits f-AR/AR-V7 and MNK-eIF4E signaling pathways to suppress EMT and castration-resistant prostate cancer xenograft growth. 29323792 2018
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.010 Biomarker disease BEFREE Activity of the ANXA10 and ATP7A mTOR pathway downstream genes might predict recurrence and progression in non-muscle invasive HG-UC of the bladder. 28665070 2017
CUI: C0023418
Disease: leukemia
leukemia
0.010 Biomarker disease BEFREE Dual targeting of eIF4E by blocking MNK and mTOR pathways in leukemia. 27094611 2017