| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | BEFREE | The findings bring into question the assertion that VG5Q, E133K is a mutation and that it causes KTS. | 16443853 | 2006 |
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|
0.720 | GeneticVariation | UNIPROT | The second is mutation E133K identified in five KTS patients, but not in 200 matched controls. | 14961121 | 2004 |
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|
0.720 | GeneticVariation | BEFREE | The second is mutation E133K identified in five KTS patients, but not in 200 matched controls. | 14961121 | 2004 |
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|
0.010 | GeneticVariation | BEFREE | Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. | 28059119 | 2017 |
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|
0.010 | GeneticVariation | BEFREE | Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. | 28059119 | 2017 |
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|
0.010 | GeneticVariation | BEFREE | Molecular studies in two additional KTS-affected individuals from two unrelated Austrian and Swiss families revealed homozygosity for nonsense mutation c.286C>T (p.Gln96(∗)) and compound heterozygosity for the splice-site mutations c.531+5G>C and c.532-2A>T in ROGDI, respectively. | 22424600 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | Molecular studies in two additional KTS-affected individuals from two unrelated Austrian and Swiss families revealed homozygosity for nonsense mutation c.286C>T (p.Gln96(∗)) and compound heterozygosity for the splice-site mutations c.531+5G>C and c.532-2A>T in ROGDI, respectively. | 22424600 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | The second is mutation E133K identified in five KTS patients, but not in 200 matched controls. | 14961121 | 2004 |