| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. | 28302169 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. | 28302169 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. | 17327381 | 2007 |
||||
|
0.800 | GeneticVariation | UNIPROT | Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. | 17327381 | 2007 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. | 10835633 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. | 10835633 | 2000 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. | 18407919 | 2008 |
|||
|
AGGA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |