INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Lipoatrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.120 GeneticVariation disease BEFREE First, we performed an association study between the IR gene and congenital lipoatrophy in two families with consanguineous parents and one or two affected children (patients D1, D2, and D3). 7829633 1995
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.120 GeneticVariation disease BEFREE Several members of this family also carry a unique variant insulin receptor gene, which, however, could not be linked to a specific alteration in receptor expression or the presence of lipoatrophy.(ABSTRACT TRUNCATED AT 250 WORDS) 2903867 1988
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.120 Biomarker disease HPO