| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. | 25355454 | 2015 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. | 26502900 | 2015 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Congenital disorders of glycosylation with neonatal presentation. | 24739649 | 2014 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. | 25497157 | 2014 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). | 22012410 | 2012 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. | 21541725 | 2011 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). | 19357119 | 2009 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. | 19396570 | 2009 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). | 17920054 | 2007 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. | 17166182 | 2007 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. | 15645285 | 2005 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Hair changes in congenital disorders of glycosylation (CDG type 1). | 12607543 | 2003 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. | 12705494 | 2002 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). | 11156536 | 2001 | |||||
Congenital disorder of glycosylation type 1A
|
0.700 | CausalMutation | CLINVAR | Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). | 10527672 | 1999 | |||||
Premature Birth
|
0.700 | CausalMutation | CLINVAR | ||||||||
Thrombocytopenia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital disorder of glycosylation type 1A
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Pulmonary Stenosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Low set ears
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hydrops Fetalis, Non-Immune
|
0.700 | CausalMutation | CLINVAR | ||||||||
Coloboma of optic disc
|
0.700 | CausalMutation | CLINVAR | ||||||||
Reduced fetal movement
|
0.700 | CausalMutation | CLINVAR | ||||||||
Depressed nasal bridge
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pleural effusion disorder
|
0.700 | CausalMutation | CLINVAR |