GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199922550
rs199922550
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 GeneticVariation UNIPROT
dbSNP: rs199922550
rs199922550
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 CausalMutation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 GeneticVariation UNIPROT
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.800 GeneticVariation UNIPROT
dbSNP: rs397509422
rs397509422
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3809216
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397509424
rs397509424
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397509425
rs397509425
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397509426
rs397509426
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		A 0.800 CausalMutation CLINVAR
dbSNP: rs771861177
rs771861177
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 GeneticVariation UNIPROT
dbSNP: rs875989850
rs875989850
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1064796834
rs1064796834
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.700 GeneticVariation UNIPROT
dbSNP: rs145535498
rs145535498
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.700 GeneticVariation UNIPROT
dbSNP: rs1553691918
rs1553691918
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809216
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553691918
rs1553691918
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553691918
rs1553691918
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553691975
rs1553691975
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809216
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		ACT 0.700 CausalMutation CLINVAR
dbSNP: rs1553691975
rs1553691975
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3809221
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		ACT 0.700 CausalMutation CLINVAR
dbSNP: rs1553691975
rs1553691975
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C3714932
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		ACT 0.700 CausalMutation CLINVAR
dbSNP: rs1559697515
rs1559697515
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0002418
Disease:
Amblyopia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0424503
Disease:
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0014877
Disease:
Esotropia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR
dbSNP: rs202160208
rs202160208
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0349588
Disease:
Short stature 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397509422
rs397509422
Entrez Id: 29925;63891
Gene Symbol: GMPPB;RNF123
GMPPB;RNF123
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		T 0.700 CausalMutation CLINVAR