Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 Biomarker GENOMICS_ENGLAND Novel CC2D2A compound heterozygous mutations cause Joubert syndrome. 27959436

2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 Biomarker 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
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 Biomarker 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
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 Biomarker 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
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 Biomarker GENOMICS_ENGLAND CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 Biomarker 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
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 Biomarker GENOMICS_ENGLAND CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008