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: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		group 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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 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: C0241816
Disease: Global brain atrophy
Global brain atrophy 		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: C0423224
Disease: Sunken eyes
Sunken eyes 		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: C0426790
Disease: Narrow thorax
Narrow thorax 		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: C0476273
Disease: Respiratory distress
Respiratory distress 		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: C1837260
Disease: Prominent forehead
Prominent forehead 		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: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		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: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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: C0036572
Disease: Seizures
Seizures 		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: C0079924
Disease: Oligohydramnios
Oligohydramnios 		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: 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: 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: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		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: C0521525
Disease: Short neck
Short neck 		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: C1839546
Disease: Microretrognathia
Microretrognathia 		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: C1846061
Disease: Infancy onset short-trunk short stature
Infancy onset short-trunk short stature 		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: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0