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:

rs121913142

INSR

0.700

GeneticVariation

UNIPROT

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

28765322

2017

dbSNP:

rs1295645322

INSR

0.700

GeneticVariation

UNIPROT

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

28765322

2017

dbSNP:

rs52800171

INSR

0.700

GeneticVariation

UNIPROT

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

28765322

2017

dbSNP:

rs52826008

INSR

0.700

GeneticVariation

UNIPROT

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

28765322

2017

dbSNP:

rs121913142

INSR

0.700

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:

rs1295645322

INSR

0.700

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:

rs52800171

INSR

0.700

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:

rs52826008

INSR

0.700

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:

rs121913142

INSR

0.700

GeneticVariation

UNIPROT

An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.

12107746

2002

dbSNP:

rs1295645322

INSR

0.700

GeneticVariation

UNIPROT

An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.

12107746

2002

dbSNP:

rs52800171

INSR

0.700

GeneticVariation

UNIPROT

An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.

12107746

2002

dbSNP:

rs52826008

INSR

0.700

GeneticVariation

UNIPROT

An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events.

12107746

2002

dbSNP:

rs121913142

INSR

0.700

GeneticVariation

UNIPROT

Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.

11260230

2001

dbSNP:

rs1295645322

INSR

0.700

GeneticVariation

UNIPROT

Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.

11260230

2001

dbSNP:

rs52800171

INSR

0.700

GeneticVariation

UNIPROT

Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.

11260230

2001

dbSNP:

rs52826008

INSR

0.700

GeneticVariation

UNIPROT

Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.

11260230

2001

dbSNP:

rs121913142

INSR

0.700

GeneticVariation

UNIPROT

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

10733238

2000

dbSNP:

rs1295645322

INSR

0.700

GeneticVariation

UNIPROT

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

10733238

2000

dbSNP:

rs52800171

INSR

0.700

GeneticVariation

UNIPROT

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

10733238

2000

dbSNP:

rs52826008

INSR

0.700

GeneticVariation

UNIPROT

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

10733238

2000

dbSNP:

rs121913142

INSR

0.700

GeneticVariation

UNIPROT

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

9175790

1997

dbSNP:

rs1295645322

INSR

0.700

GeneticVariation

UNIPROT

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

9175790

1997

dbSNP:

rs52800171

INSR

0.700

GeneticVariation

UNIPROT

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

9175790

1997

dbSNP:

rs52826008

INSR

0.700

GeneticVariation

UNIPROT

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

9175790

1997

dbSNP:

rs121913142

INSR

0.700

GeneticVariation

UNIPROT

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

8314008

1994