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: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker GENOMICS_ENGLAND Novel CC2D2A compound heterozygous mutations cause Joubert syndrome. 27959436

2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 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: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker GENOMICS_ENGLAND Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. 19574260

2010
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker 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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker GENOMICS_ENGLAND Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 18513680

2008