Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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TG | 0.700 | CausalMutation | CLINVAR | Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. | 26365340 | 2015 |
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|
TG | 0.700 | CausalMutation | CLINVAR | Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. | 25473036 | 2014 |
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TG | 0.700 | CausalMutation | CLINVAR | Clinical phenotypes of MAGEL2 mutations and deletions. | 24661356 | 2014 |
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TG | 0.700 | CausalMutation | CLINVAR | Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. | 24076603 | 2013 |
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|
TG | 0.700 | CausalMutation | CLINVAR | Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice. | 21248145 | 2011 |
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TG | 0.700 | CausalMutation | CLINVAR | Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice. | 19172181 | 2009 |
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|
TG | 0.700 | CausalMutation | CLINVAR | A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. | 19066619 | 2009 |
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|
TG | 0.700 | CausalMutation | CLINVAR | Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. | 17728320 | 2007 |
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|
TG | 0.700 | CausalMutation | CLINVAR | The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease. | 11891783 | 2002 |
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|
TG | 0.700 | CausalMutation | CLINVAR | Prader-Willi syndrome: consensus diagnostic criteria. | 8424017 | 1993 |