Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. | 26637978 | 2015 |
||||
|
0.800 | GeneticVariation | UNIPROT | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | 26637979 | 2015 |
||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | 26637979 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. | 26637978 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | 26637979 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. | 26637978 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | 26637979 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. | 26637978 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT |