ALG12, ALG12 alpha-1,6-mannosyltransferase, 79087

N. diseases: 49; N. variants: 12
Disease: Congenital disorder of glycosylation type 1G ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942090
rs28942090
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.810 GeneticVariation UNIPROT Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 17506107 2007
dbSNP: rs28942090
rs28942090
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.810 GeneticVariation UNIPROT Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. 12736397 2003
dbSNP: rs28942090
rs28942090
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.810 GeneticVariation BEFREE As the pathological phenotype of the fibroblasts of the patient was largely normalized upon transduction with the wild type gene, we demonstrate that the F142V substitution is the underlying cause of this new CDG, which we suggest be called CDG Ig. 11983712 2002
dbSNP: rs28942090
rs28942090
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.810 GeneticVariation UNIPROT As the pathological phenotype of the fibroblasts of the patient was largely normalized upon transduction with the wild type gene, we demonstrate that the F142V substitution is the underlying cause of this new CDG, which we suggest be called CDG Ig. 11983712 2002
dbSNP: rs28942090
rs28942090
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.810 GeneticVariation UNIPROT Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. 12093361 2002
dbSNP: rs28942090
rs28942090
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.810 GeneticVariation UNIPROT ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. 12217961 2002
dbSNP: rs28942090
rs28942090
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121907931
rs121907931
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 17506107 2007
dbSNP: rs121907932
rs121907932
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 17506107 2007
dbSNP: rs121907933
rs121907933
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 17506107 2007
dbSNP: rs121907934
rs121907934
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 17506107 2007
dbSNP: rs121907931
rs121907931
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. 12736397 2003
dbSNP: rs121907932
rs121907932
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. 12736397 2003
dbSNP: rs121907933
rs121907933
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. 12736397 2003
dbSNP: rs121907934
rs121907934
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. 12736397 2003
dbSNP: rs121907931
rs121907931
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. 12217961 2002
dbSNP: rs121907931
rs121907931
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. 12093361 2002
dbSNP: rs121907931
rs121907931
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. 11983712 2002
dbSNP: rs121907932
rs121907932
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. 12217961 2002
dbSNP: rs121907932
rs121907932
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		T 0.800 CausalMutation CLINVAR ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. 12217961 2002
dbSNP: rs121907932
rs121907932
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. 12093361 2002
dbSNP: rs121907932
rs121907932
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. 11983712 2002
dbSNP: rs121907933
rs121907933
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. 11983712 2002
dbSNP: rs121907933
rs121907933
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. 12093361 2002
dbSNP: rs121907933
rs121907933
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
CUI: C2931001
Disease:
Congenital disorder of glycosylation type 1G 		0.800 GeneticVariation UNIPROT ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. 12217961 2002