MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11161318
rs11161318
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs11161318
rs11161318
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs398122418
rs398122418
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C3809877
Disease:
Prader-Willi-like syndrome 		A 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1555374117
rs1555374117
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. 26365340 2015
dbSNP: rs1555374117
rs1555374117
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. 26365340 2015
dbSNP: rs770374710
rs770374710
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. 26365340 2015
dbSNP: rs797044883
rs797044883
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. 26365340 2015
dbSNP: rs797044883
rs797044883
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. 26365340 2015
dbSNP: rs1555374117
rs1555374117
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
dbSNP: rs1555374117
rs1555374117
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Clinical phenotypes of MAGEL2 mutations and deletions. 24661356 2014
dbSNP: rs1555374117
rs1555374117
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
dbSNP: rs1555374117
rs1555374117
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical phenotypes of MAGEL2 mutations and deletions. 24661356 2014
dbSNP: rs770374710
rs770374710
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
dbSNP: rs770374710
rs770374710
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Clinical phenotypes of MAGEL2 mutations and deletions. 24661356 2014
dbSNP: rs797044883
rs797044883
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
dbSNP: rs797044883
rs797044883
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Clinical phenotypes of MAGEL2 mutations and deletions. 24661356 2014
dbSNP: rs797044883
rs797044883
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Clinical phenotypes of MAGEL2 mutations and deletions. 24661356 2014
dbSNP: rs797044883
rs797044883
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
dbSNP: rs1555374117
rs1555374117
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
dbSNP: rs1555374117
rs1555374117
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
dbSNP: rs398122416
rs398122416
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C3809877
Disease:
Prader-Willi-like syndrome 		T 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
dbSNP: rs398122417
rs398122417
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C3809877
Disease:
Prader-Willi-like syndrome 		G 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
dbSNP: rs770374710
rs770374710
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		TG 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
dbSNP: rs797044883
rs797044883
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
dbSNP: rs797044883
rs797044883
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013