INPPL1, inositol polyphosphate phosphatase like 1, 3636
N. diseases: 133; N. variants: 16
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 | Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. | 23273569 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. | 23273569 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. | 23273569 | 2013 | |||||||
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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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T | 0.700 | CausalMutation | CLINVAR | Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. | 23273567 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. | 23273567 | 2013 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. | 23273567 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. | 23273567 | 2013 | ||||||
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AT | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |