ALG3, ALG3 alpha-1,3- mannosyltransferase, 10195

N. diseases: 61; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 GeneticVariation disease BEFREE An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). 15108280 2004
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 GeneticVariation disease BEFREE We report on a patient with a congenital disorder of glycosylation type Id (CDG-Id) caused by a homozygous mutation in the ALG3 gene, which results from a de novo mutation in combination with a segmental maternal uniparental isodisomy (UPD). 16053906 2005
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 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: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 GeneticVariation disease BEFREE Furthermore, our sibling pair highlights the intrafamilial variability, the natural clinical course of ALG3-CDG (CDG-Id) and the benefit of reassessing patients with undiagnosed and complex syndromes, particularly when they present with neurological deterioration. 23791010 2014
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 GeneticVariation disease BEFREE Among the many different subtypes of CDG, the defect of a mannosyltransferase encoded by the human ALG3 gene (chromosome 3q27) is known to cause CDG Id. 18679822 2008
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 Biomarker group BEFREE Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies. 29547901 2018
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 GeneticVariation group BEFREE Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). 28742265 2017
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 GeneticVariation group BEFREE We add four new biochemically confirmed variants to the list of ALG3-CDG inducing variants: c.350G>C (p.R117P), c.1263G>A (p.W421*), c.1037A>G (p.N346S), and the intron variant c.296+4A>G. 31067009 2019
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 GeneticVariation group BEFREE Fifteen patients were included: 9 with PMM2-CDG and 6 with non-PMM2-CDG (one ALG3-CDG, one ALG9-CDG, two ALG11-CDG, one MPDU1-CDG and one ATP6V0A2-CDG). 28122681 2017
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 Biomarker group BEFREE The patients showed some clinical features previously unreported in ALG3-CDG, such as bone dysplasia, cataract, corneal opacities, and pons hypoplasia. 26126960 2015
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 GeneticVariation group BEFREE Furthermore, our sibling pair highlights the intrafamilial variability, the natural clinical course of ALG3-CDG (CDG-Id) and the benefit of reassessing patients with undiagnosed and complex syndromes, particularly when they present with neurological deterioration. 23791010 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE We studied the mRNA expressions of PPFIA family members and ALG3 in a variety of tumor types compared with the normal controls using the Oncomine database along with meta-analyses of their expressions in HNSCC cancer cell line. 30805892 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Generally, our data suggest the involvement of hNOT-1/ALG3-1 in various molecular contexts determining essential processes associated with distinct cellular machineries and related to various pathologies, such as cancer, viral infections, neuronal and immunological disorders and CDG. 29547901 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE The staining intensity of ALG3 was significantly correlated to the tumor grade (grades 2-3 versus 1, p<0.05). 29799832 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE We studied the mRNA expressions of PPFIA family members and ALG3 in a variety of tumor types compared with the normal controls using the Oncomine database along with meta-analyses of their expressions in HNSCC cancer cell line. 30805892 2019
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.020 Biomarker disease BEFREE Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3. 8940094 1996
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.020 Biomarker disease BEFREE Another, ALG-3, is a mouse homologue of the chromosome 1 familial Alzheimer's disease gene PS2. 9106304 1997
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE Generally, our data suggest the involvement of hNOT-1/ALG3-1 in various molecular contexts determining essential processes associated with distinct cellular machineries and related to various pathologies, such as cancer, viral infections, neuronal and immunological disorders and CDG. 29547901 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE We studied the mRNA expressions of PPFIA family members and ALG3 in a variety of tumor types compared with the normal controls using the Oncomine database along with meta-analyses of their expressions in HNSCC cancer cell line. 30805892 2019
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		0.020 Biomarker disease BEFREE ALG3-CDG is very rare, with only nine patients described so far. 26126960 2015
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		0.020 Biomarker disease BEFREE ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltransferase ALG3. 31067009 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE ALG3 Is Activated by Heat Shock Factor 2 and Promotes Breast Cancer Growth. 29799832 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 AlteredExpression disease BEFREE The altered level of ALG3 was found corresponding to the drug-resistant phenotype of AML cell lines both in vitro and in vivo. 29880818 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE PPFIA family members and ALG3 play important roles in tumorigenesis and tumor progression. 30805892 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 AlteredExpression disease BEFREE The expression of ALG3 at 3q27.1 was higher in ESCCs, especially in patients with lymph node metastasis. 24203761 2014