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: 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: C3554617
Disease: Adducted thumb
Adducted thumb 		0.100 Biomarker phenotype HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		0.100 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE HSF2 activated ALG3 and promoted the growth of breast carcinoma. 29799832 2018
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE PPFIA family members and ALG3 play important roles in tumorigenesis and tumor progression. 30805892 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.100 Biomarker disease HPO
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: 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 Biomarker disease GENOMICS_ENGLAND
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 GeneticVariation disease UNIPROT Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. 10581255 1999
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		0.750 CausalMutation disease CLINVAR