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

N. diseases: 188; N. variants: 24
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276 2018
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. 28327570 2017
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 27804958 2016
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303 2014
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 24140112 2013
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944 2010
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation 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: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700 2009
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). 17579712 2007
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins. 10668799 2000
dbSNP: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR PUF60: a novel U2AF65-related splicing activity. 10606266 1999