DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: IGF1R ×

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:

rs121912426

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.

25040157

2015

dbSNP:

rs121912426

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

15928254

2005

dbSNP:

rs121912426

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.

14657428

2003

dbSNP:

rs121912427

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.

25040157

2015

dbSNP:

rs121912427

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

15928254

2005

dbSNP:

rs121912427

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.

14657428

2003

dbSNP:

rs121912429

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.

25040157

2015

dbSNP:

rs121912429

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

15928254

2005

dbSNP:

rs121912429

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.

14657428

2003

dbSNP:

rs141802822

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.

25040157

2015

dbSNP:

rs141802822

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

15928254

2005

dbSNP:

rs141802822

IGF1R

CUI:	C1849157
Disease:	Resistance to Insulin-Like Growth Factor I

Resistance to Insulin-Like Growth Factor I

0.700

GeneticVariation

UNIPROT

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.

14657428

2003