CCDC22, coiled-coil domain containing 22, 28952

N. diseases: 99; N. variants: 4
Disease: 3C syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.510 GeneticVariation disease BEFREE We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here. 24916641 2015
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.510 GermlineCausalMutation disease ORPHANET We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here. 24916641 2015
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.510 Biomarker disease CTD_human