Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322

2017
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Two novel mutations identified in familial cases with Donohue syndrome. 24498630

2014
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure. 22768670

2012
dbSNP: rs121913145
rs121913145
INSR
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
dbSNP: rs121913145
rs121913145
INSR
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
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989

2002
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. 9703342

1998
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families. 9249867

1997
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance. 9299395

1997
dbSNP: rs121913145
rs121913145
INSR
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
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis. 7538143

1995
dbSNP: rs121913145
rs121913145
INSR
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
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding. 8188715

1994
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Activation of glucose transport by a natural mutation in the human insulin receptor. 8419945

1993
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. 8326490

1993
dbSNP: rs121913145
rs121913145
INSR
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
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. 1607067

1992
dbSNP: rs121913145
rs121913145
INSR
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
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT 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
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. 2479553

1989
dbSNP: rs121913145
rs121913145
INSR
0.810 GeneticVariation UNIPROT Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. 2834824

1988
dbSNP: rs121913145
rs121913145
INSR
C 0.810 CausalMutation CLINVAR