| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.410 | CausalMutation | disease | CLINVAR | Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. | 28497568 | 2017 | ||||
|
0.410 | CausalMutation | disease | CLINVAR | Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. | 26673778 | 2016 | ||||
|
0.410 | CausalMutation | disease | CLINVAR | Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. | 26092869 | 2015 | ||||
|
0.410 | CausalMutation | disease | CLINVAR | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. | 22282472 | 2012 | ||||
|
0.410 | CausalMutation | disease | CLINVAR | Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. | 23351400 | 2012 | ||||
|
0.410 | CausalMutation | disease | CLINVAR | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 20512146 | 2010 | ||||
|
0.410 | GeneticVariation | disease | CLINVAR | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 20512146 | 2010 | ||||
|
0.410 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 20512146 | 2010 | ||||
|
0.410 | GeneticVariation | disease | BEFREE | Given the small size of the TMEM216 gene relative to other JBTS genes, its sequence analysis is warranted in all JBTS patients, especially those who suffer from associated anomalies. | 20036350 | 2010 | ||||
|
0.410 | CausalMutation | disease | CLINVAR | Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. | 20036350 | 2010 | ||||
|
0.410 | Biomarker | disease | HPO |