MPZL2, myelin protein zero like 2, 10205

N. diseases: 40; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital ear anomaly NOS (disorder)
0.020 Biomarker group BEFREE Among them, 17 patients with bi-allelic SLC26A4 mutations were all confirmed to have EVA or other inner ear malformation by CT scan. 19040761 2008
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.020 GeneticVariation disease BEFREE Effect of the angiotensin I-converting enzyme I/D polymorphism on cognitive decline. The EVA Study Group. 10794851 2000
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.020 GeneticVariation disease BEFREE Polymorphism of the prion protein is associated with cognitive impairment in the elderly: the EVA study. 9748018 1998
CUI: C0015672
Disease: Fatigue
Fatigue
0.010 GeneticVariation phenotype BEFREE 4) Outcome measures: primary: improvement in patients' functional disability using the Health Assessment questionnaire (HAQ); secondary: improvement in DAS28ESR, DAS28CRP, ESR, CRP, RAID score, fatigue (EVA and FACIT), and SF36. 30148432 2019
CUI: C0018081
Disease: Gonorrhea
Gonorrhea
0.010 Biomarker disease BEFREE We have gained access to it and explored the surfaces of chapters one and two (via the ethylene vinyl acetate [EVA] film technology, i.e., of diskettes of ethylene vinyl acetate with embedded strong cation and anion exchangers and C8 resins) in search of potential diseases of the author, especially of the gonorrhea bacterium, since Casanova reported that he had several bouts of this pathology along his adventurous life. 30963594 2019
CUI: C0302142
Disease: Deformity
Deformity
0.010 GeneticVariation group BEFREE The most common malformation found in cases with EVA was incomplete partition type II (IP-II; 90.4%). 31124731 2019
CUI: C0030193
Disease: Pain
Pain
0.010 GeneticVariation phenotype BEFREE Pain (EVA and NRS-101), postoperative edema, trismus, temperature, dysphagia, and hematoma will be evaluated after 1, 2, 5, and 7 days. 30212961 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 Biomarker disease BEFREE The ankle and knee joints powers and works were lower during both the braking and the push-off phases in the EVA as compared to the RB condition. 29734063 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 Biomarker disease BEFREE Taken together, our findings highlight Eva1 as a novel regulator of GIC function and also provide new mechanistic insight into the role of noncanonical NF-κB activation in GIC, thus offering multiple potential therapeutic targets for preclinical investigation in GBM. 26677976 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating Cells by Activating the Noncanonical NF-κB Signaling Pathway. 26677976 2016
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 Biomarker disease BEFREE Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating Cells by Activating the Noncanonical NF-κB Signaling Pathway. 26677976 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE In this study, we investigated the role of epithelial V-like antigen 1 (Eva1, also known as myelin protein zero-like 2) in stemness and GBM tumorigenesis. 26677976 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 Biomarker disease BEFREE Taken together, our findings highlight Eva1 as a novel regulator of GIC function and also provide new mechanistic insight into the role of noncanonical NF-κB activation in GIC, thus offering multiple potential therapeutic targets for preclinical investigation in GBM. 26677976 2016
CUI: C0018021
Disease: Goiter
Goiter
0.010 Biomarker phenotype BEFREE We propose using a combination of three parameters to define and diagnose PS: (i) sensorineural deafness with bilateral EVA; (ii) thyroid abnormality comprising goiter and/or hypothyroidism and/or a positive PDT; (iii) biallelic SLC26A4 mutations. 24224479 2014
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.010 Biomarker disease BEFREE We propose using a combination of three parameters to define and diagnose PS: (i) sensorineural deafness with bilateral EVA; (ii) thyroid abnormality comprising goiter and/or hypothyroidism and/or a positive PDT; (iii) biallelic SLC26A4 mutations. 24224479 2014
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.010 GeneticVariation disease BEFREE Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. 23162105 2013
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.010 GeneticVariation disease BEFREE Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. 23162105 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation disease BEFREE Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial. 20177029 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation disease BEFREE Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial. 20177029 2010
CUI: C0002170
Disease: Alopecia
Alopecia
0.010 GeneticVariation disease BEFREE Results of the rc mouse study, 3D structure predictions, homology with Myelin Protein Zero and EVA1, comprehensive database analyses of polymorphisms and mutations within the human MPZL3 gene and its cell, tissue expression and immunostaining pattern indicate that homozygous or compound heterozygous mutations of MPZL3 might be involved in immune-mediated human hereditary disorders with hair loss. 19054061 2009
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 GeneticVariation disease BEFREE To check its possible implication in atherosclerosis, this polymorphism was then genotyped in the AXA Study (ultrasound examinations of carotid and femoral arteries in the context of an employment medical examination, 733 subjects), the EVA Study (ultrasound examinations of carotid arteries in a study of cognitive and vascular ageing, 1092 subjects) and the GENIC Study (on brain infarction (BI), 912 subjects). 14694358 2004
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 GeneticVariation disease BEFREE To check its possible implication in atherosclerosis, this polymorphism was then genotyped in the AXA Study (ultrasound examinations of carotid and femoral arteries in the context of an employment medical examination, 733 subjects), the EVA Study (ultrasound examinations of carotid arteries in a study of cognitive and vascular ageing, 1092 subjects) and the GENIC Study (on brain infarction (BI), 912 subjects). 14694358 2004
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation disease BEFREE Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness--the ECTIM, AXA, EVA and GENIC Studies. 14694358 2004
CUI: C0751955
Disease: Brain Infarction
Brain Infarction
0.010 GeneticVariation disease BEFREE To check its possible implication in atherosclerosis, this polymorphism was then genotyped in the AXA Study (ultrasound examinations of carotid and femoral arteries in the context of an employment medical examination, 733 subjects), the EVA Study (ultrasound examinations of carotid arteries in a study of cognitive and vascular ageing, 1092 subjects) and the GENIC Study (on brain infarction (BI), 912 subjects). 14694358 2004
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
0.010 GeneticVariation phenotype BEFREE Effect of the angiotensin I-converting enzyme I/D polymorphism on cognitive decline. The EVA Study Group. 10794851 2000