Source: CLINVAR

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: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		disease 0.710 strong 1.000 8 14 2005 2018
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		disease 0.700 strong 1.000 11 14 2005 2017
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C3150411
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 		disease 0.600 None 1.000 7 16 2005 2017
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		disease 0.400 None 0 1
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.140 None 1.000 0 3 2008 2010
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1