| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.820 | CausalMutation | CLINVAR | We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation. | 28632845 | 2017 |
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T | 0.820 | CausalMutation | CLINVAR | Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. | 27766312 | 2016 |
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T | 0.820 | CausalMutation | CLINVAR | PI3-kinase mutation linked to insulin and growth factor resistance in vivo. | 26974159 | 2016 |
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T | 0.820 | CausalMutation | CLINVAR | Clinical exome sequencing for genetic identification of rare Mendelian disorders. | 25326637 | 2014 |
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T | 0.820 | CausalMutation | CLINVAR | Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. | 24886349 | 2014 |
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T | 0.820 | CausalMutation | CLINVAR | These two patients not only provide additional evidence that PIK3R1 mutations cause SHORT syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C>T; p.Arg649Trp is a hotspot mutation in this gene. | 23980586 | 2014 |
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T | 0.820 | CausalMutation | CLINVAR | PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. | 23810378 | 2013 |
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T | 0.820 | CausalMutation | CLINVAR | Mutations in PIK3R1 cause SHORT syndrome. | 23810382 | 2013 |
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T | 0.820 | CausalMutation | CLINVAR | Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome). | 23810379 | 2013 |