DisGeNET - a database of gene-disease associations

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, C0342278

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913138

INSR

0.800

GeneticVariation

UNIPROT

Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.

10733238

2000

dbSNP:

rs121913139

INSR

0.800

GeneticVariation

UNIPROT

Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.

10733238

2000

dbSNP:

rs121913140

INSR

0.800

GeneticVariation

UNIPROT

Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.

10733238

2000

dbSNP:

rs121913147

INSR

0.800

GeneticVariation

UNIPROT

Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.

10733238

2000

dbSNP:

rs121913148

INSR

0.800

GeneticVariation

UNIPROT

Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients.

10733238

2000

dbSNP:

rs121913135

INSR

0.800

GeneticVariation

UNIPROT

Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.

9175790

1997

dbSNP:

rs121913138

INSR

0.800

GeneticVariation

UNIPROT

Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.

9175790

1997

dbSNP:

rs121913139

INSR

0.800

GeneticVariation

UNIPROT

Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.

9175790

1997

dbSNP:

rs121913140

INSR

0.800

GeneticVariation

UNIPROT

Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.

9175790

1997

dbSNP:

rs121913147

INSR

0.800

GeneticVariation

UNIPROT

Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.

9175790

1997

dbSNP:

rs121913148

INSR

0.800

GeneticVariation

UNIPROT

Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.

9175790

1997

dbSNP:

rs121913135

INSR

0.800

GeneticVariation

UNIPROT

Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

8288049

1994

dbSNP:

rs121913135

INSR

0.800

GeneticVariation

UNIPROT

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

8314008

1994

dbSNP:

rs121913138

INSR

0.800

GeneticVariation

UNIPROT

Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

8288049

1994

dbSNP:

rs121913138

INSR

0.800

GeneticVariation

UNIPROT

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

8314008

1994

dbSNP:

rs121913139

INSR

0.800

GeneticVariation

UNIPROT

Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

8288049

1994

dbSNP:

rs121913139

INSR

0.800

GeneticVariation

UNIPROT

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

8314008

1994

dbSNP:

rs121913140

INSR

0.800

GeneticVariation

UNIPROT

Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

8288049

1994

dbSNP:

rs121913140

INSR

0.800

GeneticVariation

UNIPROT

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

8314008

1994

dbSNP:

rs121913147

INSR

0.800

GeneticVariation

UNIPROT

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

8314008

1994

dbSNP:

rs121913147

INSR

0.800

GeneticVariation

UNIPROT

Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

8288049

1994

dbSNP:

rs121913148

INSR

0.800

GeneticVariation

UNIPROT

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

8314008

1994

dbSNP:

rs121913148

INSR

0.800

GeneticVariation

UNIPROT

Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

8288049

1994

dbSNP:

rs121913135

INSR

0.800

GeneticVariation

UNIPROT

Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382.

8388389

1993

dbSNP:

rs121913135

INSR

0.800

GeneticVariation

UNIPROT

Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance.

8243830

1993