Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Joubert syndrome: genotyping a Northern European patient cohort. | 25920555 | 2016 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. | 27491411 | 2016 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. | 26092869 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Unraveling the genetics of Joubert and Meckel-Gruber syndromes. | 25729630 | 2014 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | 23559409 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. | 20232449 | 2010 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | 19574260 | 2010 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). | 19508969 | 2009 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Joubert syndrome: insights into brain development, cilium biology, and complex disease. | 19778711 | 2009 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. | 10508989 | 1999 |