Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome. 28803747 2018
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 GeneticVariation disease BEFREE Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. 28663160 2018
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account for various diseases like Donohue syndrome or Leprechaunism, Rabson-Mendenhall syndrome, and type A insulin resistance. 27840822 2017
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 GeneticVariation disease UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE This study describes the clinical course of a male patient with Donohue syndrome and the molecular characteristics of 2 novel compound heterozygous mutations in INSR. 26160152 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome are caused by mutations in the insulin receptor gene and are associated with extreme insulin resistance. 26691667 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every million births). 26871809 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Ten-year improvement of insulin resistance and growth with recombinant human insulin-like growth factor 1 in a patient with insulin receptor mutations resulting in leprechaunism. 25465274 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene. 26874853 2016
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 GeneticVariation disease BEFREE A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 26691667 2016
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 CausalMutation disease CLINVAR A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 26691667 2016
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 CausalMutation disease CLINVAR Leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome are caused by mutations in the insulin receptor gene and are associated with extreme insulin resistance. 26691667 2016
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Donohue syndrome (DS) is a severe form of congenital insulin resistance due to mutation(s) in the insulin receptor (INSR) gene. 25153212 2015
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 CausalMutation disease CLINVAR Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 27896077 2014
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. 24498630 2014
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 Biomarker disease BEFREE Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation. 23229189 2014
CUI: C0265344
Disease: Donohue Syndrome
Donohue 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 2014
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 2014
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 2014
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome
0.800 CausalMutation disease CLINVAR Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 27896077 2014
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene. 22972224 2013
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT Donohue syndrome (DS) is a rare autosomal recessive condition caused by mutations in the gene encoding the insulin receptor. 22768670 2012
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