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
rs118204051
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
rs118204052
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
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
rs201502401
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
rs386833752
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
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
rs754221308
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
rs754221308
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
C
0.800
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs763486732
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
A
0.800
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs763486732
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
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
rs779823379
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
rs386833752
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
MECKEL SYNDROME, TYPE 6 (disorder)
0.800
GeneticVariation
UNIPROT
First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.
24706459
2014
rs118204051
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
23012439
2012
rs118204051
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
22241855
2012
rs118204051
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
22246503
2012
rs118204051
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
22425360
2012
rs118204052
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
22246503
2012
rs118204052
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
23012439
2012
rs118204052
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
22241855
2012
rs118204052
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
22425360
2012
rs201502401
×
Entrez Id:
57545
Gene Symbol:
CC2D2A
CC2D2A
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
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
JOUBERT SYNDROME 9 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
23012439
2012