rs2059807
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Polycystic Ovary Syndrome
0.830
GeneticVariation
BEFREE
Using the transmission disequilibrium test (TDT), we failed to find that rs1799817 (p = 0.486), rs2059807 (p = 0.195), rs8108622 (p = 0.866) and rs10500204 (p = 1.0) were significantly overtransmitted to PCOS offspring from their parents.
21645371
2011
rs2059807
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Polycystic Ovary Syndrome
0.830
GeneticVariation
BEFREE
The cohort with rs2059807 MAF presented elevated levels of luteinising hormone [PCOS vs Control: 6.32 ± 2.26 mIU/mL vs 4.97 ± 3.27 mIU/mL], estradiol [116.01 ± 60.63 pg/mL vs 65.04 ± 44.98 pg/mL], and decreased HDL - C [50.4 ± 11.59 mg/dL vs 64 ± 15.49 mg/dL] showing disturbances in the hormonal patterns.
31837364
2020
rs2059807
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Polycystic Ovary Syndrome
G
0.830
GeneticVariation
GWASCAT
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
22885925
2012
rs2059807
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Polycystic Ovary Syndrome
G
0.830
GeneticVariation
GWASDB
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
22885925
2012
rs2059807
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Polycystic Ovary Syndrome
0.830
GeneticVariation
BEFREE
Our current meta-analysis suggests no significant correlation between rs1799817/rs2059806 SNPs and suscepti bility of PCOS, while rs2059807 could be a promising candidate SNP that might be involved in the susceptibility of PCOS .
25622255
2015
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
0.810
GeneticVariation
UNIPROT
Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.
2121734
1990
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
0.810
GeneticVariation
UNIPROT
Genotype-phenotype correlation in inherited severe insulin resistance.
12023989
2002
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
0.810
GeneticVariation
BEFREE
In the patient with the Rabson-Mendenhall syndrome (patient RM-1), the missense mutation substituted lysine for Asn15 in the alpha-subunit.
2365819
1990
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
0.810
GeneticVariation
UNIPROT
Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.
8314008
1994
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
0.810
GeneticVariation
UNIPROT
In the patient with the Rabson-Mendenhall syndrome (patient RM-1), the missense mutation substituted lysine for Asn15 in the alpha-subunit.
2365819
1990
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
0.810
GeneticVariation
UNIPROT
Progressive decline in insulin levels in Rabson-Mendenhall syndrome.
10443650
1999
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
T
0.810
CausalMutation
CLINVAR
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
0.810
GeneticVariation
UNIPROT
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
28765322
2017
rs121913143
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Rabson-Mendenhall Syndrome
0.810
GeneticVariation
UNIPROT
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.
17201797
2007
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.
12538626
2003
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
28765322
2017
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
BEFREE
The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor.
2365819
1990
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport.
1730625
1992
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.
1607067
1992
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.
7815442
1994
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization.
8636294
1996
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding.
8188715
1994
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
9703342
1998
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
12970295
2003
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Two novel mutations identified in familial cases with Donohue syndrome.
24498630
2014