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