rs28942090
|
|
|
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 |
rs28942090
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs28942090
|
|
|
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 |
rs28942090
|
|
|
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 |
rs28942090
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs28942090
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
|
12093361 |
2002 |
rs28942090
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
|
12093361 |
2002 |
rs121907931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs121907931
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121907931
|
|
|
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 |
rs121907931
|
|
|
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 |
rs121907932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907932
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
|
12093361 |
2002 |
rs121907932
|
|
|
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 |
rs121907932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs121907932
|
|
|
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 |
rs121907933
|
|
|
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 |
rs121907933
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs121907933
|
|
|
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 |
rs121907933
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121907933
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
|
12093361 |
2002 |
rs121907933
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |