MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 GeneticVariation disease BEFREE Here, we show that paternal MAGEL2 mutations are also responsible for lethal AMC, recapitulating the clinical spectrum of PWS and suggesting that MAGEL2 is a PWS-determining gene. 26365340 2015
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 Biomarker disease GENOMICS_ENGLAND Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.030 Biomarker disease BEFREE These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype. 24076603 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.030 Biomarker disease BEFREE Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. 27195816 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.030 Biomarker disease BEFREE Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene <i>MAGEL2,</i> located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. 29496979 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease BEFREE Duplication of paternally expressed genes MKRN3, MAGEL2 and NDN in two autistic patients without extra material of a neighboring region enhances their likelihood to be genes related to autism. 24239951 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE MAGEL2 mutations, first reported to be the cause of the Prader-Willi like syndrome with autism by Schaaf et al. 29359444 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease CTD_human Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 Biomarker disease BEFREE We demonstrate that necdin and Magel2 bind to and prevent proteasomal degradation of Fez1, a fasciculation and elongation protein implicated in axonal outgrowth and kinesin-mediated transport, and also bind to the Bardet-Biedl syndrome (BBS) protein BBS4 in co-transfected cells. 15649943 2005
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		0.010 GeneticVariation disease BEFREE Patients with MAGEL2 variants shared several features with PWS, such as neonatal hypotonia, poor suck, and obesity; however, there were also unique features, including arthrogryposis and a failure to acquire meaningful words. 31791363 2019
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0428977
Disease: Bradycardia
Bradycardia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation disease CLINVAR
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		0.100 CausalMutation disease CLINVAR
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.100 CausalMutation disease CLINVAR
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		0.100 CausalMutation disease CLINVAR
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		0.100 CausalMutation disease CLINVAR
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO