Source: HPO

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: C1168239
Disease: Asymmetry of the ears
Asymmetry of the ears 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1301937
Disease: Talipes
Talipes 		disease 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1849025
Disease: Oval face
Oval face 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C4023411
Disease: Hemifacial hypoplasia
Hemifacial hypoplasia 		disease 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C4073246
Disease: Abnormal cricoid cartilage morphology
Abnormal cricoid cartilage morphology 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C4280276
Disease: Cleft alveolar process of maxilla
Cleft alveolar process of maxilla 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1866207
Disease: Dysplastic aortic valve
Dysplastic aortic valve 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1854409
Disease: Naevus flammeus of the eyelid
Naevus flammeus of the eyelid 		phenotype 0.100 None 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype 0.100 None 0 0