INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Furthermore, a Japanese boy with insulin resistance and acanthosis nigricans was found to be heterozygous for a mutation of the insulin receptor gene that resulted in the replacement of glycine-996 with valine in the ATP binding site of the receptor. 31827016 2019
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Acanthosis nigricans with high fasting insulin levels in the proband suggested severe insulin resistance and prompted INSR gene sequencing, which revealed the novel, heterozygous p.Phe1213Leu mutation in the patient and his family members. 29411486 2018
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism. 27505086 2016
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR). 23824322 2013
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE By contrast, a larger group of insulin-resistant patients who were obese with hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN syndrome) did not have a high probability of mutations in the insulin receptor. 15232309 2004
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Defects in the insulin receptor gene causing insulin resistance and AN are well recognized, but recent data in several other syndromes of this association, including lipodystrophic disorders, have identified causative defects in other pathways. 12452857 2002
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans. 12107746 2002
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE In addition to being a target for androgens the skin has abundant insulin receptors on the keratinocyte surface membrane and acanthosis nigricans is a common symptom of severe insulin resistance among patients with insulin receptor disorders. 11595827 2000
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE We have used DGGE to screen for mutations in the insulin receptor gene in a family in which four of five daughters were affected by type A insulin resistance in association with acanthosis nigricans and hyperandrogenism. 8175972 1994
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans. 1588128 1992
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Defect in tyrosine kinase activity of the insulin receptor from a patient with insulin resistance and acanthosis nigricans. 2180980 1990
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE A mutant insulin receptor gene lacking almost the entire kinase domain has been identified in an individual with type A insulin resistance and acanthosis nigricans. 2544997 1989
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 Biomarker disease HPO