| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165. | 23430531 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. | 23575229 | 2013 |
||||
|
0.800 | GeneticVariation | UNIPROT | Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. | 23575229 | 2013 |
||||
|
0.800 | GeneticVariation | UNIPROT | Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165. | 23430531 | 2013 |
||||
|
0.800 | GeneticVariation | UNIPROT | TMEM165 deficiency causes a congenital disorder of glycosylation. | 22683087 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | TMEM165 deficiency causes a congenital disorder of glycosylation. | 22683087 | 2012 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. | 23575229 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165. | 23430531 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | TMEM165 deficiency causes a congenital disorder of glycosylation. | 22683087 | 2012 |
||||
|
A | 0.700 | CausalMutation | CLINVAR |