PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication. 29908350 2019