DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Developmental delay (disorder) ×

Gene: IGF1R ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	3480
Gene Symbol:	IGF1R

IGF1R

insulin like growth factor 1 receptor

0.399

0.885

0.97

CUI:	C0424605
Disease:	Developmental delay (disorder)

Developmental delay (disorder)

phenotype

0.320

strong

1.000

0

2013

2017