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

N. diseases: 188; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123001
rs398123001
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C3810023
Disease:
VERHEIJ SYNDROME 		0.800 GeneticVariation UNIPROT SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 24140112 2013
dbSNP: rs398123001
rs398123001
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C3810023
Disease:
VERHEIJ SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276 2018
dbSNP: rs1554643463
rs1554643463
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276 2018
dbSNP: rs1554643473
rs1554643473
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation 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: C0000772
Disease:
Multiple congenital anomalies 		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 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276 2018
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. 28327570 2017
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1554643463
rs1554643463
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1554643463
rs1554643463
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: rs1554643473
rs1554643473
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1554643473
rs1554643473
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
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: 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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs4076877
rs4076877
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. 28135244 2017
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 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: rs1554643463
rs1554643463
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: rs1554643473
rs1554643473
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0432072
Disease:
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: rs1554643598
rs1554643598
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		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 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 27804958 2016
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303 2014
dbSNP: rs1554643463
rs1554643463
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303 2014