| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | BEFREE | A previously reported patient homozygous for p.I26T had evolving CPHD and EPP. | 27000987 | 2016 |
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0.020 | GeneticVariation | BEFREE | A patient homozygous for p.R160H was previously reported in a patient with CPHD</span>, EPP, APH. | 27000987 | 2016 |
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0.020 | GeneticVariation | BEFREE | These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects. | 22145475 | 2011 |
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0.020 | GeneticVariation | BEFREE | We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents. | 14561704 | 2003 |
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0.010 | GeneticVariation | BEFREE | A mutation analysis identified homozygous p.R109Q mutations in HESX1 in a patient with CPHD. | 28332357 | 2017 |
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0.010 | GeneticVariation | BEFREE | Finally, we identified compound heterozygous mutations in HESX1, p.[R159W];[R160H], in a patient with PA and CPHD. | 27000987 | 2016 |
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|
0.010 | GeneticVariation | BEFREE | A novel heterozygous p.Glu102Gly mutation in the HESX1 gene and a novel homozygous p.Arg121Thr mutation in the PROP1 gene were detected in 2 pedigrees with CPHD. | 26111865 | 2015 |
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0.010 | GeneticVariation | BEFREE | Among 92 CPHD patients, we identified a novel heterozygous missense mutation c.401C>G (p.Pro134Arg) in a patient with CPHD, pituitary malformation, and an underdeveloped left optic nerve. | 22715480 | 2012 |