| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. | 27431290 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. | 25802881 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. | 23281139 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development. | 23884777 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state. | 18796523 | 2008 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in the Gs alpha gene causing hormone resistance. | 17161328 | 2006 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. | 14561710 | 2003 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. | 11600516 | 2001 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Activating and inactivating mutations in the human GNAS1 gene. | 10980525 | 2000 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Imprinting in Albright's hereditary osteodystrophy. | 8383205 | 1993 |