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

N. diseases: 188; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 GeneticVariation disease BEFREE Here we report on an 18-years-old female patient with 13.1 kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome). 30472487 2019
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 GeneticVariation disease BEFREE Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. 30352594 2018
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 GeneticVariation disease BEFREE Among these, a two base pair deletion was identified in the PUF60 gene, which is one of three genes in the critical region of the 8q24.3 microdeletion syndrome (Verheij syndrome). 28990276 2018
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 Biomarker disease BEFREE Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. 27804958 2016
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 Biomarker disease GENOMICS_ENGLAND SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 24140112 2013
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 GeneticVariation disease UNIPROT SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 24140112 2013
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 Biomarker disease GENOMICS_ENGLAND SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 24140112 2013
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 Biomarker disease GENOMICS_ENGLAND An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. 19464398 2009
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 CausalMutation disease CLINVAR
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 GeneticVariation disease CLINVAR
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker group BEFREE Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 27804958 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker group GENOMICS_ENGLAND Consistent with these findings, we identified an individual with microcephaly, short stature, intellectual disability, and heart defects with a de novo c.505C>T variant leading to a p.His169Tyr change in PUF60. 24140112 2013
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		0.300 Therapeutic disease CTD_human Synergistic effect of non-transmissible Sendai virus vector encoding the c-myc suppressor FUSE-binding protein-interacting repressor plus cisplatin in the treatment of malignant pleural mesothelioma. 21435101 2011
CUI: C0027540
Disease: Necrosis
Necrosis 		0.300 Biomarker phenotype CTD_human Synergistic effect of non-transmissible Sendai virus vector encoding the c-myc suppressor FUSE-binding protein-interacting repressor plus cisplatin in the treatment of malignant pleural mesothelioma. 21435101 2011
CUI: C0027659
Disease: Neoplasms, Experimental
Neoplasms, Experimental 		0.300 Therapeutic phenotype CTD_human Synergistic effect of non-transmissible Sendai virus vector encoding the c-myc suppressor FUSE-binding protein-interacting repressor plus cisplatin in the treatment of malignant pleural mesothelioma. 21435101 2011
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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease 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