rs16835020
ALG1;EEF2KMT
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
rs882294
ALG1;NAGPA-AS1
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
rs121908340
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Congenital disorder of glycosylation type 1K
G
0.800
CausalMutation
CLINVAR
rs151173406
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Congenital disorder of glycosylation type 1K
T
0.800
CausalMutation
CLINVAR
rs151173406
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
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
rs267606651
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Congenital disorder of glycosylation type 1K
C
0.800
CausalMutation
CLINVAR
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Congenital disorder of glycosylation type 1K
T
0.800
CausalMutation
CLINVAR
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
26931382
2016
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Congenital disorder of glycosylation type 1K
T
0.800
GeneticVariation
CLINVAR
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
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
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
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
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
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
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
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
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
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
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Congenital disorder of glycosylation type 1K
T
0.800
CausalMutation
CLINVAR
Genomic diagnosis for children with intellectual disability and/or developmental delay.
28554332
2017
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
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
rs28939378
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
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
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Neurogenic Urinary Bladder
G
0.700
GeneticVariation
CLINVAR
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Recurrent urinary tract infection
G
0.700
GeneticVariation
CLINVAR
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Tonic - clonic seizures
G
0.700
GeneticVariation
CLINVAR
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Abnormal delivery
G
0.700
GeneticVariation
CLINVAR
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Encephalopathy, CTCAE 3.0
G
0.700
GeneticVariation
CLINVAR
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Exophthalmos
G
0.700
GeneticVariation
CLINVAR
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Actual Aspiration
G
0.700
GeneticVariation
CLINVAR
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Moderate intrauterine growth retardation
G
0.700
GeneticVariation
CLINVAR
rs1009298200
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
Congenital disorder of glycosylation type 1K
G
0.700
GeneticVariation
CLINVAR