ALK, ALK receptor tyrosine kinase, 238
N. diseases: 519; N. variants: 41
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | SusceptibilityMutation | CLINVAR | |||||||||
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A | 0.800 | SusceptibilityMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 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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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | SusceptibilityMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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0.800 | GeneticVariation | UNIPROT | Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. | 18923523 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of ALK as a major familial neuroblastoma predisposition gene. | 18724359 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Activating mutations in ALK provide a therapeutic target in neuroblastoma. | 18923525 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking. | 21242967 | 2011 |