rs1392635342
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
JOUBERT SYNDROME 9 (disorder)
|
TTA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs762998472
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
JOUBERT SYNDROME 9 (disorder)
|
TGGCATGTTTTGGCAGCGA |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs118204051
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
JOUBERT SYNDROME 9 (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs118204052
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
JOUBERT SYNDROME 9 (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
JOUBERT SYNDROME 9 (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs267606709
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
COACH syndrome
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs386833752
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
MECKEL SYNDROME, TYPE 6 (disorder)
|
T |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs386833752
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
JOUBERT SYNDROME 9 (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs779823379
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
JOUBERT SYNDROME 9 (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs11728037
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
rs118204053
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
JOUBERT SYNDROME 9 (disorder)
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs11932730
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
rs1553845300
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
COACH syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs17476670
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
|
22241855 |
2012 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Familial aplasia of the vermis
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
|
22241855 |
2012 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Familial aplasia of the vermis
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
|
19777577 |
2009 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
|
23012439 |
2012 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Meckel-Gruber syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Familial aplasia of the vermis
|
T |
0.700 |
CausalMutation |
CLINVAR |
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
|
26485645 |
2015 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Familial aplasia of the vermis
|
T |
0.700 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
rs201502401
|
Entrez Id: |
57545 |
Gene Symbol: |
CC2D2A |
CC2D2A
|
Familial aplasia of the vermis
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
|
23012439 |
2012 |