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 Biomarker disease GENOMICS_ENGLAND MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse. 29961571 2018
CUI: C4748374
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 111
DEAFNESS, AUTOSOMAL RECESSIVE 111 		0.400 CausalMutation disease CLINVAR
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 GeneticVariation disease GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 GeneticVariation disease GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.100 Biomarker disease HPO
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.050 Biomarker disease BEFREE Nineteen patients with PS and 23 patients with nonsyndromic EVA, aged 5-53 years, were included. 24224479 2014
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: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.050 GeneticVariation disease BEFREE Loss or reduction in the function of pendrin results in both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct (ns-EVA)) hearing loss. 22116359 2011
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.050 Biomarker disease BEFREE The shape and function of thyroid were confirmed to be normal by thyroid ultrasound scan and thyroid hormone assays in 19 of the 20 patients with EVA or other inner ear malformation except one who had cystoid change in the right side of thyroid.No Pendred syndrome was diagnosed. 19040761 2008
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.050 Biomarker disease BEFREE These mutations may be of value for the diagnosis of Pendred syndrome and NSRD with EVA. 16924389 2006
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.040 Biomarker disease BEFREE We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. 29982980 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.040 GeneticVariation disease BEFREE SLC26A4 mutations have also been identified in patients exhibiting isolated sensorineural hearing loss without apparent thyroid abnormality (nonsyndromic enlargement of the vestibular aqueduct; nonsyndromic EVA). 24224479 2014
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
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
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE The most common malformation found in cases with EVA was incomplete partition type II (IP-II; 90.4%). 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: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		0.020 Biomarker disease BEFREE Methods- We combined individual patient data of 4754 patients with symptomatic carotid stenosis 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]). 30621529 2019
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: 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: 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: 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: 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 The value of a rapid contrast-enhanced angio-MRI protocol in the detection of head and neck paragangliomas in SDHx mutations carriers: a retrospective study on behalf of the PGL.EVA investigators. 26427697 2016
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: C0266589
Disease: Congenital ear anomaly NOS (disorder)
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