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: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GeneticVariation disease BEFREE Rabson-Mendenhall syndrome (RMS) is caused by mutations of the insulin receptor and results in extreme insulin resistance and dysglycemia. 23969187 2013
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GeneticVariation disease BEFREE Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). 23824322 2013
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure. 22768670 2012
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure. 22768670 2012
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GeneticVariation disease BEFREE Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence. 22563226 2012
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GeneticVariation disease BEFREE We report a Japanese boy with RMS who showed resistance to r-IGF-1 therapy and a novel mutation in the insulin receptor in the tyrosine kinase domain. 22876563 2012
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GermlineCausalMutation disease ORPHANET In conclusion, INSR mutations associated with RMS were identified. 21869538 2011
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GeneticVariation disease BEFREE In conclusion, INSR mutations associated with RMS were identified. 21869538 2011
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Although mutations in the insulin receptor have been causally implicated with leprechaunism, the full pathophysiology of the syndrome cannot be accounted for by malfunction of this gene alone. 20033851 2010
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene. 19774849 2009
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease CTD_human We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain. 18411068 2008
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE In the present case, the patient had been diagnosed with leprechaunism with mutation in the insulin receptor gene and had treatment with recombinant human insulin-like growth factor I (IGF-I) starting at the age of 1 year 7 months. 18302477 2008
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain. 18411068 2008
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 Biomarker disease CTD_human Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. 18411068 2008
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GeneticVariation disease BEFREE Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. 18411068 2008
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 Biomarker disease BEFREE Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance and hyperinsulinemia due to defects in signaling through the insulin receptor. 17560154 2007
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GeneticVariation disease BEFREE We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally. 17201797 2007
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GeneticVariation disease UNIPROT We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally. 17201797 2007
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 Biomarker disease BEFREE Severe insulin resistance resulting from known or putative genetic defects affecting the insulin receptor or post-insulin receptor signalling represents a clinical spectrum ranging from Donohue's and Rabson-Mendenhall syndrome, where the genetic defect is identified, through to the milder phenotype of type A insulin resistance, where a genetic defect can only be detected in around 10% of cases. 17785698 2007
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 GermlineCausalMutation disease ORPHANET We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally. 17201797 2007
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 15161766 2004
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Homozygous mutations in the insulin receptor (IR) gene cause the rare leprechaunism and Rabson-Mendenhall syndromes, severe forms of hyperinsulinemic insulin resistance for which no therapy is currently available. 15610610 2004
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance. 12970295 2003
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease BEFREE Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject. 12538626 2003
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance. 12970295 2003