Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.700 | Biomarker | disease | GENOMICS_ENGLAND | Novel CC2D2A compound heterozygous mutations cause Joubert syndrome. | 27959436 | 2017 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. | 24706459 | 2014 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. | 23351400 | 2012 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | 22246503 | 2012 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | 19574260 | 2010 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? | 19466712 | 2009 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. | 19777577 | 2009 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. | 18513680 | 2008 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. | 18950740 | 2008 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. | 18513680 | 2008 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | GeneticVariation | disease | CLINVAR |