rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs779526456
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
|
22282472 |
2012 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
MECKEL SYNDROME, TYPE 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
|
22282472 |
2012 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
|
22282472 |
2012 |
rs779526456
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
|
22282472 |
2012 |
rs779526456
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
MECKEL SYNDROME, TYPE 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Meckel syndrome.
|
21368913 |
2011 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
|
20036350 |
2010 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
MECKEL SYNDROME, TYPE 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
|
20036350 |
2010 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
MECKEL SYNDROME, TYPE 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
|
20512146 |
2010 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
|
20512146 |
2010 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
|
20512146 |
2010 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
|
20036350 |
2010 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
MECKEL SYNDROME, TYPE 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
|
20512146 |
2010 |
rs779526456
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
|
20036350 |
2010 |
rs779526456
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
|
20512146 |
2010 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
MECKEL SYNDROME, TYPE 2
|
T |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
T |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs11230683
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
Familial aplasia of the vermis
|
T |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
rs11230683
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
T |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
rs201108965
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
Familial aplasia of the vermis
|
T |
0.700 |
CausalMutation |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
rs11230683
|
Entrez Id: |
51259 |
Gene Symbol: |
TMEM216 |
TMEM216
|
JOUBERT SYNDROME 2
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |