Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. 28327570

2017
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 27804958

2016
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 24140112

2013
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR The NCBI BioSystems database. 19854944

2010
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR 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
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700

2009
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). 17579712

2007
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins. 10668799

2000
dbSNP: rs1554643473
rs1554643473
PUF60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR PUF60: a novel U2AF65-related splicing activity. 10606266

1999