INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 2365819 1990
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. 2479553 1989
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. 2479553 1989
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. 2834824 1988
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. 2834824 1988
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		G 0.810 CausalMutation CLINVAR
dbSNP: rs7248104
rs7248104
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0202236
Disease:
Triglycerides measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs121913135
rs121913135
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913136
rs121913136
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913138
rs121913138
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913139
rs121913139
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913140
rs121913140
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913141
rs121913141
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913147
rs121913147
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913148
rs121913148
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913153
rs121913153
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913159
rs121913159
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs1555689937
rs1555689937
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs267607184
rs267607184
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs52836744
rs52836744
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs7248104
rs7248104
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0202236
Disease:
Triglycerides measurement 		A 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs121913136
rs121913136
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Two novel mutations identified in familial cases with Donohue syndrome. 24498630 2014
dbSNP: rs121913141
rs121913141
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.800 GeneticVariation UNIPROT Two novel mutations identified in familial cases with Donohue syndrome. 24498630 2014