×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
GeneticVariation
disease
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
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
Biomarker
disease
BEFREE
C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in cells from an ALG12 mannosyltransferase-deficient patient (CDG-Ig ), whereas cells from an ALG3-deficient patient (CDG-Id) and from an MPDU1-deficient patient (CDG-If) were not corrected.
16079417
2005
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
GeneticVariation
disease
UNIPROT
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
12736397
2003
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
Biomarker
disease
GENOMICS_ENGLAND
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
11983712
2002
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
CausalMutation
disease
CLINVAR
The ALG12 mannosyltransferase defect defines a new type of congenital disorder of glycosylation, designated CDG-Ig .
12217961
2002
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
Biomarker
disease
GENOMICS_ENGLAND
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
12093361
2002
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
GeneticVariation
disease
UNIPROT
The ALG12 mannosyltransferase defect defines a new type of congenital disorder of glycosylation, designated CDG-Ig .
12217961
2002
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
GeneticVariation
disease
UNIPROT
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
11983712
2002
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
GeneticVariation
disease
UNIPROT
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
12093361
2002
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
79087
Gene Symbol:
ALG12
ALG12
0.710
GeneticVariation
disease
CLINVAR