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: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.200 GeneticVariation disease GWASDB Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0018099
Disease: Gout
Gout 		0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.100 GeneticVariation phenotype GWASDB A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 21194676 2011
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 15161766 2004
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall 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: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
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
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1864952
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 5 		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
CUI: C1864952
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989 2002
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
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 UNIPROT We studied the structure and function of the insulin receptor (IR) in two sisters with leprechaunism. 8636294 1996
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		0.800 GeneticVariation disease UNIPROT Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance. 9299395 1997