rs144050370, PDGFRB

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MYOFIBROMATOSIS, INFANTILE, 1
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
0.800 CausalMutation CLINVAR
MYOFIBROMATOSIS, INFANTILE, 1
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
0.800 GeneticVariation UNIPROT
Myofibromatosis
CUI: C0206648
Disease: Myofibromatosis
0.010 GeneticVariation BEFREE Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr). 30573803 2019
Infantile myofibromatosis
CUI: C0432284
Disease: Infantile myofibromatosis
0.010 GeneticVariation BEFREE Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr). 30573803 2019
Overgrowth Syndrome
CUI: C2986703
Disease: Overgrowth Syndrome
0.010 GeneticVariation BEFREE In the present study, the activity of three PDGFRB mutants associated with familial IM (R561C, P660T and N666K) and one PDGFRB mutant found in patients with overgrowth syndrome (P584R) was tested in various models. 26455322 2016