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
CUI: C4748374
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 111
DEAFNESS, AUTOSOMAL RECESSIVE 111
0.400 CausalMutation disease CLINVAR
Progressive sensorineural hearing impairment
0.100 Biomarker disease HPO
Sensorineural Hearing Loss (disorder)
0.040 Biomarker disease BEFREE <b>Material and Methods:</b> HRCT scanning of the temporal bones of 82 cases with normal inner ear structures and 104 cases with an EVA and bilaterally sensorineural hearing loss (SNHL) was performed. 31124731 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.020 Biomarker group BEFREE 1.Three types malformations include EVA, EVA with Mondini and Mondini were found. 30762457 2019
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: 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: 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
Sensorineural Hearing Loss (disorder)
0.040 Biomarker disease BEFREE A total of 271 children with nonsyndromic sensorineural hearing loss and EVA underwent SLC26A4 gene screening. 24245694 2013
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
Congenital ear anomaly NOS (disorder)
0.020 Biomarker group BEFREE Among them, 28 patients with isolated Mondini dysplasia (MD group), 50 patients with enlarged vestibular aqueduct with Mondini dysplasia (EVA with MD group), 50 patients with enlarged vestibular aqueduct without Mondini dysplasia (EVA group), and 16 patients with other types of inner ear malformations (IEM group) were identified. 21961810 2011
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.050 Biomarker disease BEFREE Besides clinical and radiological assessments, molecular and functional studies are essential for the correct diagnosis of Pendred syndrome and non-syndromic EVA. 22116360 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.020 GeneticVariation disease BEFREE By screening a cohort of phenotype-matched subjects and a cohort of HI subjects in whom WES had been performed previously, we identified two additional families with biallelic truncating variants of MPZL2. 29961571 2018
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
0.020 Biomarker disease BEFREE Correction 2: Everolimus (EVE) and exemestane (EXE) in patients with advanced breast cancer aged ≥ 65 years: new lessons for clinical practice from the EVA study. 30613355 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 GeneticVariation disease BEFREE Differential association of common carotid intima-media thickness and carotid atherosclerotic plaques with parental history of premature death from coronary heart disease : the EVA study. 9974420 1999
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 GeneticVariation disease BEFREE Differential association of common carotid intima-media thickness and carotid atherosclerotic plaques with parental history of premature death from coronary heart disease : the EVA study. 9974420 1999
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation disease BEFREE Differential association of common carotid intima-media thickness and carotid atherosclerotic plaques with parental history of premature death from coronary heart disease : the EVA study. 9974420 1999
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: 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
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
0.020 Biomarker disease BEFREE Everolimus (EVE) and exemestane (EXE) in patients with advanced breast cancer aged ≥ 65 years: new lessons for clinical practice from the EVA study. 30159129 2018
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis
0.020 Biomarker disease BEFREE Follow-up data from 2184 carotid artery stenting and 2261 carotid endarterectomy patients from 4 randomized trials (EVA-3S [Endarterectomy Versus Angioplasty in Patients With Symptomatic Severe Carotid Stenosis], SPACE [Stent-Protected Angioplasty Versus Carotid Endarterectomy], ICSS [International Carotid Stenting Study], and CREST [Carotid Revascularization Endarterectomy Versus Stenting Trial]) were used to validate 23 short-term outcome models to estimate stroke or death risk ≤30 days after the procedure and the original outcome measure for which the model was developed. 30012816 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.020 GeneticVariation disease BEFREE Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. 29982980 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.020 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: 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