| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. | 18622393 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | An imprinted locus associated with transient neonatal diabetes mellitus. | 10699182 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | An imprinted locus associated with transient neonatal diabetes mellitus. | 10699182 | 2000 |
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|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. | 18622393 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | We identified a new TNDM mutation (R826W) in the first nucleotide-binding domain (NBD1) of SUR1. | 18497752 | 2008 |
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|
0.010 | GeneticVariation | BEFREE | We identified a new TNDM mutation (R826W) in the first nucleotide-binding domain (NBD1) of SUR1. | 18497752 | 2008 |
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|
0.010 | GeneticVariation | BEFREE | We identified the three novel heterozygous mutations (G53S, G53R, I182V) in three of 11 probands with clinically defined TNDM, who did not have chromosome 6q24 abnormalities. | 15718250 | 2005 |