ADAMTSL2, ADAMTS like 2, 9719
N. diseases: 61; N. variants: 12
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 | Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. | 21415077 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. | 21415077 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. | 18677313 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. | 18677313 | 2008 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. | 21415077 | 2011 | |||||||
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0.700 | GeneticVariation | UNIPROT | Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. | 21415077 | 2011 | |||||||
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0.700 | GeneticVariation | UNIPROT | Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. | 21415077 | 2011 | |||||||
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A | 0.700 | CausalMutation | CLINVAR | ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. | 18677313 | 2008 | ||||||
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0.700 | GeneticVariation | UNIPROT | ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. | 18677313 | 2008 | |||||||
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0.700 | GeneticVariation | UNIPROT | ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. | 18677313 | 2008 | |||||||
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0.700 | GeneticVariation | UNIPROT | ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. | 18677313 | 2008 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR |