DisGeNET - a database of gene-disease associations

INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109

Disease: Donohue Syndrome ×

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:

rs121913145

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

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

28765322

2017

dbSNP:

rs121913158

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

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

28765322

2017

dbSNP:

rs121913145

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

Two novel mutations identified in familial cases with Donohue syndrome.

24498630

2014

dbSNP:

rs121913158

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

Two novel mutations identified in familial cases with Donohue syndrome.

24498630

2014

dbSNP:

rs121913145

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.

22768670

2012

dbSNP:

rs121913158

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.

22768670

2012

dbSNP:

rs121913145

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.

12538626

2003

dbSNP:

rs121913145

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

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:

rs121913158

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

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:

rs121913158

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.

12538626

2003

dbSNP:

rs121913145

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

Genotype-phenotype correlation in inherited severe insulin resistance.

12023989

2002

dbSNP:

rs121913158

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

Genotype-phenotype correlation in inherited severe insulin resistance.

12023989

2002

dbSNP:

rs121913145

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.

9703342

1998

dbSNP:

rs121913158

Entrez Id:	3643
Gene Symbol:	INSR

INSR

CUI:	C0265344
Disease:

Donohue Syndrome

0.810

GeneticVariation

UNIPROT

Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.

9703342

1998

dbSNP:

rs121913145

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:

rs121913145

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:

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

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

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

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

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

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:

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

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

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