DisGeNET - a database of gene-disease associations

INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109

Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913135

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

GeneticVariation

UNIPROT

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

28765322

2017

dbSNP:

rs121913138

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

GeneticVariation

UNIPROT

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

28765322

2017

dbSNP:

rs121913139

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

GeneticVariation

UNIPROT

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

28765322

2017

dbSNP:

rs121913140

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

GeneticVariation

UNIPROT

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

28765322

2017

dbSNP:

rs121913147

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

GeneticVariation

UNIPROT

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

28765322

2017

dbSNP:

rs121913148

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

GeneticVariation

UNIPROT

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

28765322

2017

dbSNP:

rs121913135

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913138

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913139

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913140

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913147

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913148

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913135

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913138

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913139

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913140

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913147

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913148

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913135

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913138

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913139

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913140

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913147

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913148

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

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:

rs121913135

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0342278
Disease:

Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

0.800

GeneticVariation

UNIPROT

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

10733238

2000