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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 Biomarker phenotype BEFREE A recent animal study reported that Magel2, which encodes a member of the MAGE/necdin family of proteins, might be associated in the pathophysiology of psychiatric disorders. 20467835 2010
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		0.100 CausalMutation group CLINVAR
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation phenotype CLINVAR
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex 		0.100 CausalMutation phenotype CLINVAR
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C4073265
Disease: Abnormality of inferior oblique extraocular muscle
Abnormality of inferior oblique extraocular muscle 		0.100 CausalMutation phenotype CLINVAR
CUI: C1857045
Disease: Abnormality of the philtrum
Abnormality of the philtrum 		0.100 Biomarker phenotype HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.100 CausalMutation disease CLINVAR
CUI: C1861349
Disease: Absent distal interphalangeal creases
Absent distal interphalangeal creases 		0.100 CausalMutation phenotype CLINVAR
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		0.100 CausalMutation phenotype CLINVAR
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation phenotype CLINVAR
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C1386091
Disease: Acromicria
Acromicria 		0.100 Biomarker disease HPO
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.100 Biomarker disease HPO
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		0.100 CausalMutation phenotype CLINVAR
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.100 Biomarker phenotype HPO
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.100 CausalMutation phenotype CLINVAR
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0003123
Disease: Anorexia
Anorexia 		0.010 Biomarker disease BEFREE We demonstrate Magel2-null mice are insensitive to the anorexic effect of peripherally administered leptin. 23341784 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 GeneticVariation disease BEFREE Recently, mutations in MAGEL2 have been described in Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis. 28281571 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 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: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 Biomarker disease GENOMICS_ENGLAND 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 GeneticVariation disease BEFREE Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. 31504653 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.350 GeneticVariation disease BEFREE Our results indicate that MAGEL2 mutations cause multiple congenital anomalies and intellectual disability accompanied by arthrogryposis multiplex congenita and various endocrinologic abnormalities, supporting that the view that clinical phenotypes of MAGEL2 mutations are variable. 29359444 2018