Source: INFERRED

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: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		disease 0.960 moderate 1.000 0 1 2009 2019
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		group 0.100 None 1.000 1 1 2015 2015
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		disease 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		disease 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0