INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Insulin resistance - type A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913147
rs121913147
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342336
Disease:
Insulin resistance - type A 		0.010 GeneticVariation BEFREE In the other mutant allele, there is a missense mutation substituting serine for Asn462-a mutation identified previously in one allele of the insulin receptor gene in a patient with type-A insulin resistance. 7860063 1995
dbSNP: rs1329693158
rs1329693158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342336
Disease:
Insulin resistance - type A 		0.010 GeneticVariation BEFREE These observations suggest that the homozygous Arg252-->His mutation is responsible for the type A insulin resistance of the proband, whereas in the heterozygous state, the mutation results in mild insulin resistance indistinguishable from that observed in noninsulin-dependent diabetes mellitus. 8530617 1995
dbSNP: rs121913135
rs121913135
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342336
Disease:
Insulin resistance - type A 		0.010 GeneticVariation BEFREE A glycine-1008 to valine mutation in the insulin receptor in a woman with type A insulin resistance. 8392082 1993