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

N. diseases: 188; N. variants: 24
Disease: VERHEIJ SYNDROME ×
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