CAVIN1, caveolae associated protein 1, 284119

N. diseases: 151; N. variants: 14
Disease: Generalized Lipodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.020 GeneticVariation disease BEFREE In conclusion, mutations in PTRF result in a novel phenotype that includes generalized lipodystrophy with mild metabolic derangements, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis. 20684003 2010
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.020 GeneticVariation disease BEFREE Here, we identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy. 19726876 2009