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 Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families. 9249867 1997
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		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
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
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
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
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
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis. 7538143 1995
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis. 7538143 1995
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. 8314008 1994
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
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
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding. 8188715 1994
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation BEFREE Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. 8188715 1994
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
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
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. 8188715 1994
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Activation of glucose transport by a natural mutation in the human insulin receptor. 8419945 1993
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. 8326490 1993
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Activation of glucose transport by a natural mutation in the human insulin receptor. 8419945 1993
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. 8326490 1993
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
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
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. 1607067 1992
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. 1607067 1992
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
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
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
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
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
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
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
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
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
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
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		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