Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GermlineCausalMutation disease ORPHANET Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene. 20339196 2010
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 12970295 2003
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease 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
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients. 11260230 2001
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. 10733238 2000
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance. 9175790 1997
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 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
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GermlineCausalMutation disease ORPHANET Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 8288049 1994
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 8288049 1994
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. 8314008 1994
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance. 8243830 1993
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382. 8388389 1993
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms. 1563582 1992
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 2002058 1991
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 2365819 1990
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. 2168397 1990
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. 1963473 1990
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. 2544998 1989
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 GeneticVariation disease UNIPROT Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. 3283938 1988
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 Biomarker disease GENOMICS_ENGLAND
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 CausalMutation disease CLINVAR
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
0.700 Biomarker disease CTD_human