TBC1D1, TBC1 domain family member 1, 23216

N. diseases: 25; N. variants: 7
Disease: Constitutional obesity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity 		0.030 GeneticVariation disease BEFREE The interaction enhances the efficiency by which AMPK phosphorylates TBC1D1 on its key regulatory site, Ser<sup>237</sup> Furthermore, the interaction is reduced by a naturally occurring R125W mutation in the PTB1 domain of TBC1D1, previously found to be associated with severe familial obesity in females, with a concomitant reduction in Ser<sup>237</sup> phosphorylation. 30135087 2018
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity 		0.030 GeneticVariation disease BEFREE A non-synonymous polymorphism (rs35859249, p.Arg125Trp) in the N-terminal TBC1D1 phosphotyrosine-binding (PTB) domain has shown a replicated association with familial obesity in women. 23667688 2013
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity 		0.030 GeneticVariation disease BEFREE These results confirm a putative role of TBC1D1 R125W variant in familial obesity predisposition. 18325908 2008