INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Rabson-Mendenhall Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. 17201797 2007
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989 2002
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Progressive decline in insulin levels in Rabson-Mendenhall syndrome. 10443650 1999
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: 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: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		T 0.810 CausalMutation CLINVAR