Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16835020
rs16835020
Entrez Id: 56052;196483
Gene Symbol: ALG1;EEF2KMT
ALG1;EEF2KMT
CUI: C0282577
Disease:
Congenital Disorders of Glycosylation
0.010 GeneticVariation BEFREE In contrast to a previously reported speculation on R438W we confirmed both mutations as disease-causing in ALG1-CDG. 24157261 2014
dbSNP: rs882294
rs882294
Entrez Id: 56052;100507589
Gene Symbol: ALG1;NAGPA-AS1
ALG1;NAGPA-AS1
CUI: C0920296
Disease:
Developmental reading disorder
0.010 GeneticVariation BEFREE Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia was identified after FDR correction for multiple comparisons. 25643770 2015
dbSNP: rs121908340
rs121908340
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
G 0.800 CausalMutation CLINVAR
dbSNP: rs151173406
rs151173406
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR
dbSNP: rs151173406
rs151173406
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 GeneticVariation CLINVAR Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. 20679665 2010
dbSNP: rs267606651
rs267606651
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
C 0.800 CausalMutation CLINVAR
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 26931382 2016
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 GeneticVariation CLINVAR
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. 14973778 2004
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. 27172925 2016
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. 22966035 2012
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 14709599 2004
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 14973782 2004
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. 20679665 2010
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
T 0.800 CausalMutation CLINVAR Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. 27325525 2016
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0005697
Disease:
Neurogenic Urinary Bladder
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0262655
Disease:
Recurrent urinary tract infection
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0494475
Disease:
Tonic - clonic seizures
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0549629
Disease:
Abnormal delivery
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1963101
Disease:
Encephalopathy, CTCAE 3.0
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0015300
Disease:
Exophthalmos
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2712334
Disease:
Actual Aspiration
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4023370
Disease:
Moderate intrauterine growth retardation
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K
G 0.700 GeneticVariation CLINVAR