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: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0266036
Disease: Macrodontia
Macrodontia 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C2931008
Disease: Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2A 		disease 0.920 None 1.000 0 9 1996 2016
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype 0.100 None 0 0
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 0