DisGeNET - a database of gene-disease associations

CC2D2A, coiled-coil and C2 domain containing 2A, 57545

N. diseases: 167; N. variants: 93

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs118204051

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

23012439

2012

dbSNP:

rs118204051

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

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

dbSNP:

rs118204051

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

18950740

2008

dbSNP:

rs118204051

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

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

dbSNP:

rs118204051

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

18387594

2008

dbSNP:

rs118204051

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

22425360

2012

dbSNP:

rs118204051

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

19777577

2009

dbSNP:

rs118204051

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs118204052

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs118204052

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

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

dbSNP:

rs118204052

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

18387594

2008

dbSNP:

rs118204052

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

18950740

2008

dbSNP:

rs118204052

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

23012439

2012

dbSNP:

rs118204052

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

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

dbSNP:

rs118204052

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

22425360

2012

dbSNP:

rs118204052

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

19777577

2009

dbSNP:

rs201502401

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

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

dbSNP:

rs201502401

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

18387594

2008

dbSNP:

rs201502401

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

23012439

2012

dbSNP:

rs201502401

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

18950740

2008

dbSNP:

rs201502401

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

19777577

2009

dbSNP:

rs201502401

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

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

dbSNP:

rs201502401

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

22425360

2012

dbSNP:

rs201502401

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C2676788
Disease:

JOUBERT SYNDROME 9 (disorder)

0.800

GeneticVariation

UNIPROT

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs267606709

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011