|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.
|
27959436 |
2017 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
|
23012439 |
2012 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
|
22241855 |
2012 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
|
22241855 |
2012 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
|
22246503 |
2012 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
|
22246503 |
2012 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
|
19777577 |
2009 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
|
19777577 |
2009 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
|
18387594 |
2008 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
|
18950740 |
2008 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
|
18513680 |
2008 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
|
18950740 |
2008 |
|
| Entrez Id: |
57545 |
| Gene Symbol: |
CC2D2A |
CC2D2A
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|