Source: GENOMICS_ENGLAND

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: 84892
Gene Symbol: POMGNT2
POMGNT2 		protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.628 0.500 5.6E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease 0.620 strong 1.000 1 0 2012 2015
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2 		protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.628 0.500 5.6E-06
CUI: C3553813
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		disease 0.600 None 1.000 2 0 2012 2015
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2 		protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.628 0.500 5.6E-06
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group 0.300 strong 1.000 1 0 2015 2015