rs144050370, PDGFRB

N. diseases: 4
Disease: Myofibromatosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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