DisGeNET - a database of gene-disease associations

PDGFRB, platelet derived growth factor receptor beta, 5159

N. diseases: 492; N. variants: 30

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:

rs863224946

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4225270
Disease:

Kosaki overgrowth syndrome

0.830

GeneticVariation

BEFREE

The two known types of pathogenic variants (p.(Pro584Arg) and p.(Trp566Arg)) of the PDGFRB that cause KOGS are exclusively located in the juxtaglomerular domain that regulates autoactivation/inhibition of PDGFRB.

31710779

2019

dbSNP:

rs863224946

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4225270
Disease:

Kosaki overgrowth syndrome

0.830

GeneticVariation

BEFREE

We expand the Kosaki overgrowth syndrome (KOGS) phenotype by over 70% to include 24 unreported KOGS symptoms, in a first male patient, the third overall associated with the PDGFRB c.1751C>G p.(Pro584Arg) mutation.

29226947

2018

dbSNP:

rs863224946

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4225270
Disease:

Kosaki overgrowth syndrome

0.830

GeneticVariation

BEFREE

Recently, we established a novel overgrowth syndrome (Kosaki overgrowth syndrome, OMIM #616592) arising from a de novo mutation in PDGFRB, that is, c.1751C>G p.(Pro584Arg).

28639748

2017

dbSNP:

rs863224946

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4225270
Disease:

Kosaki overgrowth syndrome

0.830

CausalMutation

CLINVAR

dbSNP:

rs863224946

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4225270
Disease:

Kosaki overgrowth syndrome

0.830

GeneticVariation

UNIPROT

dbSNP:

rs367543286

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4551572
Disease:

MYOFIBROMATOSIS, INFANTILE, 1

0.800

CausalMutation

CLINVAR

Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.

28183292

2017

dbSNP:

rs367543286

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4551572
Disease:

MYOFIBROMATOSIS, INFANTILE, 1

0.800

CausalMutation

CLINVAR

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.

26455322

2016

dbSNP:

rs1554108211

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C1866182
Disease:

Penttinen-Aula syndrome

0.800

GeneticVariation

UNIPROT

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

26279204

2015

dbSNP:

rs397509381

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C3554321
Disease:

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.800

GeneticVariation

UNIPROT

Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

26599395

2015

dbSNP:

rs397509382

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C3554321
Disease:

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.800

GeneticVariation

UNIPROT

Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

26599395

2015

dbSNP:

rs367543286

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4551572
Disease:

MYOFIBROMATOSIS, INFANTILE, 1

0.800

CausalMutation

CLINVAR

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

23731542

2013

dbSNP:

rs367543286

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4551572
Disease:

MYOFIBROMATOSIS, INFANTILE, 1

0.800

CausalMutation

CLINVAR

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

23731537

2013

dbSNP:

rs367543286

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4551572
Disease:

MYOFIBROMATOSIS, INFANTILE, 1

0.800

GeneticVariation

UNIPROT

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

23731537

2013

dbSNP:

rs367543286

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4551572
Disease:

MYOFIBROMATOSIS, INFANTILE, 1

0.800

GeneticVariation

UNIPROT

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

23731542

2013

dbSNP:

rs397509381

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C3554321
Disease:

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.800

GeneticVariation

UNIPROT

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

24065723

2013

dbSNP:

rs397509381

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C3554321
Disease:

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.800

GeneticVariation

UNIPROT

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

23255827

2013

dbSNP:

rs397509382

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C3554321
Disease:

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.800

GeneticVariation

UNIPROT

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

23255827

2013

dbSNP:

rs397509382

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C3554321
Disease:

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.800

GeneticVariation

UNIPROT

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

24065723

2013

dbSNP:

rs144050370

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4551572
Disease:

MYOFIBROMATOSIS, INFANTILE, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs144050370

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C4551572
Disease:

MYOFIBROMATOSIS, INFANTILE, 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1554108211

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C1866182
Disease:

Penttinen-Aula syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs397509381

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C3554321
Disease:

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs397509382

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C3554321
Disease:

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs367543286

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C0432284
Disease:

Infantile myofibromatosis

0.730

GeneticVariation

BEFREE

This study aimed to analyze the phosphorylation of important kinases in the NSTS-47 cell line derived from a tumor of a boy with infantile myofibromatosis who harbored the p.R561C mutation in PDGFR-beta.

30200486

2018

dbSNP:

rs367543286

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

CUI:	C0432284
Disease:

Infantile myofibromatosis

0.730

CausalMutation

CLINVAR

PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.

28334876

2017