Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. | 28765322 | 2017 |
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0.700 | GeneticVariation | UNIPROT | Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. | 12970295 | 2003 |
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0.700 | GeneticVariation | UNIPROT | An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events. | 12107746 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients. | 11260230 | 2001 |
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0.700 | GeneticVariation | UNIPROT | Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. | 10733238 | 2000 |
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0.700 | GeneticVariation | UNIPROT | Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance. | 9175790 | 1997 |
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0.700 | GeneticVariation | UNIPROT | Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. | 8288049 | 1994 |
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0.700 | GeneticVariation | UNIPROT | Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. | 8314008 | 1994 |
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0.700 | GeneticVariation | UNIPROT | Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance. | 8243830 | 1993 |
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0.700 | GeneticVariation | UNIPROT | Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382. | 8388389 | 1993 |
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0.700 | GeneticVariation | UNIPROT | Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms. | 1563582 | 1992 |
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0.700 | GeneticVariation | UNIPROT | Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. | 2002058 | 1991 |
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0.700 | GeneticVariation | UNIPROT | Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. | 1963473 | 1990 |
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0.700 | GeneticVariation | UNIPROT | Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. | 2365819 | 1990 |
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0.700 | GeneticVariation | UNIPROT | A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. | 2168397 | 1990 |
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0.700 | GeneticVariation | UNIPROT | Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. | 2544998 | 1989 |
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0.700 | GeneticVariation | UNIPROT | Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. | 3283938 | 1988 |