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: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Prenatal analysis of the insulin receptor gene in a family with leprechaunism. 8532629 1995
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. 8188715 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 Biomarker disease GENOMICS_ENGLAND Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 8288049 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Mutations in the insulin receptor gene can cause genetic syndromes such as leprechaunism that are associated with extreme insulin resistance. 7815442 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity. 7962321 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 Biomarker disease BEFREE Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism. 7535732 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. 8188715 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT In spite of a homozygous abnormality of the insulin receptor gene and many of the clinical features of severe insulin resistance, the proband's clinical syndrome was noticeably different from previously described patients with leprechaunism who usually die within the first six months of life. 7815442 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 Biomarker disease BEFREE About 20 cases of primary receptor mutations (type A syndrome of insulin resistance, leprechaunism and Rabson-Mendenhall syndrome) and 16 cases of autoantibodies against insulin receptor (type B syndrome of insulin resistance) are described in Japan. 7859597 1994
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT Activation of glucose transport by a natural mutation in the human insulin receptor. 8419945 1993
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. 8101305 1993
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. 8326490 1993
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE In this investigation, we have identified a one year-old boy from a consanguineous pedigree who is homozygous for deletion of the insulin receptor gene resulting in leprechaunism. 7693131 1993
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31. 1730625 1992
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied. 1607067 1992
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE More recently a series of mutations of the insulin receptor gene have been identified as the cause of the extreme insulin resistance, observed in rare syndromes, such as type A insulin resistance or leprechaunism. 1306516 1992
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 AlteredExpression disease BEFREE These studies therefore raise the possibility that the phenotypic expression of leprechaunism results from defects in the expression of both the IR and the EGFR. 1316988 1992
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 Biomarker disease BEFREE Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied. 1607067 1992
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE We have previously shown that a homozygous mutation encoding a substitution of proline for leucine at position 233 in the insulin receptor is linked with the syndrome of leprechaunism, being a lethal form of insulin resistance in newborn children. 1931997 1991
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor. 2365819 1990
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor. 2365819 1990
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 AlteredExpression disease BEFREE In one patient with leprechaunism (leprechaun/Minn-1), there is greater than 90% decrease in the levels of insulin-receptor mRNA. 1968373 1990
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Mutations in the insulin receptor gene have been described in families with the inherited insulin-resistant syndrome leprechaunism. 2157428 1990
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease BEFREE Restriction fragment length polymorphisms of the insulin receptor gene in families with insulin resistance and leprechaunism. 2574533 1989
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome
0.800 GeneticVariation disease UNIPROT A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. 2479553 1989