CCDC47, coiled-coil domain containing 47, 57003

N. diseases: 55; N. variants: 5
Disease: Abnormality of the liver ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 30401460 2018