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: rs1085307135
rs1085307135
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0424605
Disease:
Developmental delay (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307135
rs1085307135
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C3810023
Disease:
VERHEIJ SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1085307135
rs1085307135
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0349588
Disease:
Short stature 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307135
rs1085307135
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0542519
Disease:
Congenital absence of kidney 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307135
rs1085307135
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0009363
Disease:
Congenital ocular coloboma (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307137
rs1085307137
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307137
rs1085307137
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C4551563
Disease:
Microcephaly (physical finding) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307137
rs1085307137
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0020555
Disease:
Hypertrichosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307137
rs1085307137
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0020490
Disease:
Hyperopia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1085307137
rs1085307137
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0016842
Disease:
Congenital pectus excavatum 		T 0.700 GeneticVariation CLINVAR
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: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0345354
Disease:
Radial polydactyly 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 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: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700 2009
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: C3810023
Disease:
VERHEIJ SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C1384666
Disease:
hearing impairment 		C 0.700 CausalMutation CLINVAR
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: 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: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944 2010
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 24140112 2013
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692232
rs1131692232
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins. 10668799 2000