Source: CURATED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Variants in DOCK3 cause developmental delay and hypotonia. | 30976111 | 2019 |
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|
0.700 | GeneticVariation | UNIPROT | Variants in DOCK3 cause developmental delay and hypotonia. | 30976111 | 2019 |
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|
0.700 | GeneticVariation | UNIPROT | Variants in DOCK3 cause developmental delay and hypotonia. | 30976111 | 2019 |
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|
0.700 | GeneticVariation | UNIPROT | DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. | 29130632 | 2018 |
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|
0.700 | GeneticVariation | UNIPROT | DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. | 29130632 | 2018 |
||||
|
0.700 | GeneticVariation | UNIPROT | DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. | 29130632 | 2018 |
||||
|
0.700 | GeneticVariation | UNIPROT | Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. | 28195318 | 2017 |
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|
0.700 | GeneticVariation | UNIPROT | Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. | 28195318 | 2017 |
||||
|
0.700 | GeneticVariation | UNIPROT | Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. | 28195318 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR |