Disease: COACH syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND Novel CC2D2A compound heterozygous mutations cause Joubert syndrome. 27959436 2017
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 GermlineCausalMutation disease ORPHANET 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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease BEFREE Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease 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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 GeneticVariation disease UNIPROT 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
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740 2008
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 18513680 2008
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease CTD_human
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 GeneticVariation disease CLINVAR