PUF60, poly(U) binding splicing factor 60, 22827

N. diseases: 188; N. variants: 24
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 Biomarker phenotype BEFREE PUF60 deficiency (PD) causes a developmental delay coupled with intellectual disability and spinal, cardiac, ocular and renal defects, but PD pathogenesis is not understood. 29788428 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 GeneticVariation phenotype BEFREE In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. 28327570 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 GeneticVariation phenotype BEFREE All six patients with a PUF60 variant (the five patients of the present study and the unique reported patient) have the same core facial gestalt as 8q24.3 microdeletions patients, associated with DD. 27804958 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 GeneticVariation phenotype CLINVAR