ADRA2A, adrenoceptor alpha 2A, 150

N. diseases: 102; N. variants: 7
Disease: Familial partial lipodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.300 Biomarker disease GENOMICS_ENGLAND We conclude that heterozygous p.Leu68Phe ADRA2A mutation causes a rare atypical FPLD, most likely by inducing excessive lipolysis in some adipose tissue depots. 27376152 2016
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.300 Biomarker disease GENOMICS_ENGLAND We conclude that heterozygous p.Leu68Phe ADRA2A mutation causes a rare atypical FPLD, most likely by inducing excessive lipolysis in some adipose tissue depots. 27376152 2016