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

N. diseases: 188; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 CausalMutation disease CLINVAR
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 GeneticVariation disease CLINVAR
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.740 Biomarker disease CTD_human
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 GeneticVariation phenotype CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.100 Biomarker disease HPO
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.100 GeneticVariation disease CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation disease CLINVAR
CUI: C0006131
Disease: Branchioma
Branchioma 		0.100 Biomarker disease HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.100 Biomarker disease HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.100 GeneticVariation disease CLINVAR
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0013528
Disease: Echolalia
Echolalia 		0.100 Biomarker phenotype HPO
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 GeneticVariation disease CLINVAR
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		0.100 Biomarker phenotype HPO