MAGEE1, MAGE family member E1, 57692

N. diseases: 19; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.300 GeneticVariation disease UNIPROT
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.070 Biomarker disease BEFREE The ureido benzenesulfonamides incorporating triazinyl moieties were investigated as inhibitors of four selected physiologically relevant human carbonic anhydrase (hCA, EC 4.2.1.1) isoforms, namely, hCA I, II, IX, and XII which are involved in various diseases such as glaucoma, epilepsy, obesity and cancer. 30312866 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.070 Biomarker disease BEFREE The cytosolic isoform hCA I was inhibited with K<sub>i</sub>'s ranging between 53.2 nM and 7.616 μM whereas the glaucoma associated cytosolic isoform hCA II was inhibited with K<sub>i</sub>'s in the range 21.8 nM-0.807 μM. 29571155 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.070 Biomarker disease BEFREE The physiologically important and off-target cytosolic isoform hCA I was weakly inhibited by most of the newly synthesized sulfonamides while the glaucoma associated isoform hCA II was moderately inhibited with K<sub>I</sub>s spanning in low nanomolar range (K<sub>I</sub> = 8.0 nM-0.903 μM). 31539777 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.070 Biomarker disease BEFREE These compounds were tested for the inhibition of four human (h) isoforms, hCA I, II, IX, and XII, involved in pathologies such as glaucoma (CA II and XII) or cancer (CA IX/XII). 31112841 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.070 Biomarker disease BEFREE Some of these sulfonamides showed effective inhibitory action (in the nanomolar range) against the cytosolic isoform hCA II and the transmembrane, tumor-associated one hCA IX, making them interesting candidates for preclinical evaluation in glaucoma or various tumors in which the two enzymes are involved. hCA I and IV were on the other hand less inhibited by these sulfonamides, with inhibition constants in the micromolar range. 28161252 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.070 Biomarker disease BEFREE The obtained 1,3-diaryltriazene-substituted sulfonamides were investigated as inhibitors of four selected human carbonic anhydrase (CA, EC 4.2.1.1) isoforms (hCA I, hCA II, hCA VII and hCA IX) are involved in various diseases such as glaucoma, epilepsy, retinitis pigmentosa, cancer, obesity, etc. 29462772 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.070 Biomarker disease BEFREE Most of these compounds exhibited excellent activity against all these isoforms. hCA I was inhibited with <i>K<sub>i</sub></i>s in the range of 50.8-966.8 nM, while the glaucoma associated hCA II was inhibited with <i>K<sub>i</sub></i>s in the range of 6.5-760.0 nM. 31237458 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation disease BEFREE The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study. 17065362 2006
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation disease BEFREE Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. 19209188 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.020 Biomarker disease BEFREE The ureido benzenesulfonamides incorporating triazinyl moieties were investigated as inhibitors of four selected physiologically relevant human carbonic anhydrase (hCA, EC 4.2.1.1) isoforms, namely, hCA I, II, IX, and XII which are involved in various diseases such as glaucoma, epilepsy, obesity and cancer. 30312866 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.020 Biomarker disease BEFREE Most screened sulfonamides showed high potency in inhibiting hCA II, widely involved in glaucoma, epilepsy, edema, and other pathologies (K<sub>i</sub>s in the ranging from 6.32 ± 0.06 to 128.93 ± 23.11 nM). hCA I was inhibited with K<sub>i</sub>s in the range of 6.80 ± 0.10-85.91 ± 7.57 nM, whereas AChE in the range of 60.79 ± 3.51-249.55 ± 7.89 nM. 31129502 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE As a result, the novel menthol sulfamate and menthol carbonyl sulfamate derivatives can be promising Alzheimer's disease drug candidates and novel hCA I and hCA II enzymes inhibitors. 30255953 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 Biomarker disease BEFREE As the physiological function hCA I is poorly understood, and it was recently shown to be involved in the pathogenesis of cerebral malaria and amyotrophic lateral sclerosis, selective and effective inhibitors may be useful as tools or drugs for better understanding this abundant isoform. 28318894 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 Biomarker disease BEFREE Synovial membrane cytokine expression is predictive of joint damage progression in rheumatoid arthritis: a two-year prospective study (the DAMAGE study cohort). 16572447 2006
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.010 Biomarker disease BEFREE Damage generated by oxidation of nucleosides may be implicated in BD pathophysiology; however, evidence from in vivo studies is limited and the extent of state-related alterations is unclear. 27505230 2016
CUI: C0025202
Disease: melanoma
melanoma
0.010 AlteredExpression disease BEFREE Furthermore, melanoma differentiation associated gene-7 induced expression of a growth arrest and DNA damage (GADD) gene and reduced the expression of both VEGF and MVD in xenograft tumors. 20354907 2011
CUI: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE The ureido benzenesulfonamides incorporating triazinyl moieties were investigated as inhibitors of four selected physiologically relevant human carbonic anhydrase (hCA, EC 4.2.1.1) isoforms, namely, hCA I, II, IX, and XII which are involved in various diseases such as glaucoma, epilepsy, obesity and cancer. 30312866 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 Biomarker disease BEFREE To elucidate the mechanism of NMF-mediated radiosensitization, we examined the effects of this agent on gamma-ray-induced DNA double-strand breaks and micronuclei in two cell lines, clone A (human colon carcinoma) and HCA-1 (murine hepatocarcinoma). 2756107 1989
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE To elucidate the mechanism of NMF-mediated radiosensitization, we examined the effects of this agent on gamma-ray-induced DNA double-strand breaks and micronuclei in two cell lines, clone A (human colon carcinoma) and HCA-1 (murine hepatocarcinoma). 2756107 1989
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis
0.010 Biomarker disease BEFREE Red cell carbonic anhydrase isoenzyme activities (HCA-I and HCA-II) were quantitated in blood hemolysates of two female siblings affected with autosomal recessive osteopetrosis in addition to family members who were both obligate and potential heterozygotes as well as normal controls. 3933860 1985
CUI: C0005395
Disease: Bile Duct Diseases
Bile Duct Diseases
0.300 Biomarker group CTD_human Embracing the Dark Side: Computational Approaches to Unveil the Functionality of Genes Lacking Biological Annotation in Drug-Induced Liver Injury. 30515189 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE A tumor growth delay assay was performed using murine syngeneic tumors; one radioresistant tumor, HCa-I and one radiosensitive tumor, MCa-K. 20657160 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE These compounds showed pronounced selectivity towards the cytosolic human (h) isoforms such as the hCA I, II and VII rather than the membrane tumor associate hCA IX. 31693947 2020