CCDC47, coiled-coil domain containing 47, 57003

N. diseases: 55; N. variants: 5
Disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748898
Disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
TRICHOHEPATONEURODEVELOPMENTAL SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 30401460 2018
CUI: C4748898
Disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
TRICHOHEPATONEURODEVELOPMENTAL SYNDROME 		0.400 CausalMutation disease CLINVAR