Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GermlineCausalMutation disease ORPHANET Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene. 20339196 2010
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. 10733238 2000
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. 8314008 1994
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance. 8243830 1993
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 2365819 1990
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. 1963473 1990
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. 2544998 1989
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. 3283938 1988
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 CausalMutation disease CLINVAR
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease CTD_human