AKT2, AKT serine/threonine kinase 2, 208

N. diseases: 264; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy
0.300 Biomarker disease GENOMICS_ENGLAND To determine whether genetic variation in AKT2 plays a broader role in human metabolic disease, we sequenced the entire coding region and splice junctions of AKT2 in 94 unrelated patients with severe insulin resistance, 35 of whom had partial lipodystrophy. 17327441 2007