EFNB1, ephrin B1, 1947
N. diseases: 134; N. variants: 19
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). | 15959873 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). | 15959873 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). | 15959873 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. | 15166289 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. | 15124102 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. | 15124102 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. | 15166289 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. | 15166289 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. | 15124102 | 2004 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |