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

N. diseases: 49; N. variants: 12
Disease: Congenital disorder of glycosylation type 1G ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		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
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		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
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 GeneticVariation disease UNIPROT Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. 12736397 2003
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		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
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 CausalMutation disease CLINVAR The ALG12 mannosyltransferase defect defines a new type of congenital disorder of glycosylation, designated CDG-Ig. 12217961 2002
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 Biomarker disease GENOMICS_ENGLAND Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. 12093361 2002
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 GeneticVariation disease UNIPROT The ALG12 mannosyltransferase defect defines a new type of congenital disorder of glycosylation, designated CDG-Ig. 12217961 2002
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		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
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 GeneticVariation disease UNIPROT Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. 12093361 2002
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 Biomarker disease CTD_human
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		0.710 GeneticVariation disease CLINVAR