Source: ALL

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: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.430 strong 1.000 3 0 2018 2019
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 strong 1.000 2 0 2018 2019
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease 0.010 None 1.000 1 0 2014 2014