Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. | 28386937 | 2018 |
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A | 0.700 | GeneticVariation | CLINVAR | A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. | 28386937 | 2018 |
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|
T | 0.700 | CausalMutation | CLINVAR | Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. | 21834044 | 2011 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. | 21834044 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. | 20890278 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. | 20729831 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | WDR62 is associated with the spindle pole and is mutated in human microcephaly. | 20890279 | 2010 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. | 20729831 | 2010 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. | 20890278 | 2010 |
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|
A | 0.700 | GeneticVariation | CLINVAR | WDR62 is associated with the spindle pole and is mutated in human microcephaly. | 20890279 | 2010 |