CCDC8, coiled-coil domain containing 8, 83987

N. diseases: 98; N. variants: 3
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.550 Biomarker disease GENOMICS_ENGLAND There have only been 2 prior reports of mutations in CCDC8 causing 3-M syndrome. 28675896 2017
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.550 GeneticVariation disease BEFREE There have only been 2 prior reports of mutations in CCDC8 causing 3-M syndrome. 28675896 2017
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.550 Biomarker disease BEFREE Three genes, cullin 7 (CUL7), coiled-coil domain containing 8, and obscurin-like 1 are genetic candidates of 3-M syndrome. 26488604 2016
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.550 GeneticVariation disease BEFREE The CCDC8 gene is mutated in 3M syndrome, a short-stature disorder with additional facial and skeletal abnormalities. 25752541 2015
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.550 Biomarker disease BEFREE Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. 23018678 2012
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.550 GeneticVariation disease BEFREE Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. 21737058 2011
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.550 GermlineCausalMutation disease ORPHANET Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. 21737058 2011