Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		disease 0.740 None 1.000 0 11 2009 2019
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.130 None 1.000 0 1 2016 2018
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.130 None 1.000 0 10 2016 2018
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 12 3 1999 2018
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 12 2 1999 2018
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 4
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		phenotype 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C4551487
Disease: Submucous cleft palate
Submucous cleft palate 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease 0.100 None 0 4