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: 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: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		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: C1853487
Disease: Thick eyebrow
Thick eyebrow 		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: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		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: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		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: C1833144
Disease: Slender long bone
Slender long bone 		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: C0578038
Disease: Thin lips
Thin lips 		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: 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: C0521525
Disease: Short neck
Short neck 		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: 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: 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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		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: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		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: C1853738
Disease: Long eyelashes
Long eyelashes 		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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		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: C1856119
Disease: Low hanging columella
Low hanging columella 		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: 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: C4023159
Disease: Reduced factor IX activity
Reduced factor IX activity 		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: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile 		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: 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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		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: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		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: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		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: C1859339
Disease: Midfrontal capillary hemangioma
Midfrontal capillary hemangioma 		phenotype 0.100 None 0 0