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: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.100 Biomarker disease HPO
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		0.100 Biomarker disease HPO
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		0.100 Biomarker disease HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 GeneticVariation disease CLINVAR
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 CausalMutation disease CLINVAR
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.100 Biomarker disease HPO
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		0.100 Biomarker disease HPO
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: 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: 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
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		0.010 Biomarker disease BEFREE The mRNA expressions of PPFIA family members and ALG3 in laryngeal squamous cell carcinoma cell line and normal laryngeal cell line were detected by quantitative real-time polymerase chain reaction. 30805892 2019