| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. | 22967285 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. | 22967285 | 2013 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Clinical findings in patients with GLI2 mutations--phenotypic variability. | 21204792 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Clinical findings in patients with GLI2 mutations--phenotypic variability. | 21204792 | 2012 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. | 20685856 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. | 20685856 | 2010 |
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|
G | 0.700 | GeneticVariation | CLINVAR | A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. | 15994174 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. | 15994174 | 2005 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. | 14581620 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. | 14581620 | 2003 |