Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | disease | 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 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | Compilation of all new symptoms reported here with published clinical data further identifies at least 18 clinical parameters common to all cases to date, encompassing both known KOGS-associated PDGFRB mutations. | 29226947 | 2018 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | From a functional standpoint, hypermorphic mutations in PDGFRB lead to Kosaki overgrowth syndrome, infantile myofibromatosis (OMIM #228550), and Penttinen syndrome (OMIM #601812), whereas hypomorphic mutations lead to idiopathic basal ganglia calcification (OMIM #615007). | 28639748 | 2017 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | From a functional standpoint, hypermorphic mutations in PDGFRB lead to Kosaki overgrowth syndrome, infantile myofibromatosis (OMIM #228550), and Penttinen syndrome (OMIM #601812), whereas hypomorphic mutations lead to idiopathic basal ganglia calcification (OMIM #615007). | 28639748 | 2017 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. | 26455322 | 2016 | ||||
|
0.730 | GeneticVariation | disease | UNIPROT | Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. | 25454926 | 2015 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. | 25454926 | 2015 | ||||
|
0.730 | CausalMutation | disease | CLINVAR | |||||||
|
0.730 | Biomarker | disease | CTD_human |