INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome. 28803747 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance. 8175972 1994