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

N. diseases: 188; N. variants: 24
Disease: Developmental delay (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307135
rs1085307135
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0424605
Disease:
Developmental delay (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs398123001
rs398123001
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0424605
Disease:
Developmental delay (disorder) 		0.010 GeneticVariation BEFREE To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated with DD, microcephaly, craniofacial and cardiac defects. 27804958 2016