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: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		disease 0.700 None 1.000 2 0 2013 2017
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		disease 0.700 None 1.000 2 0 2013 2017
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		disease 0.600 None 1.000 2 0 2013 2017
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.480 strong 1.000 1 0 2015 2019