CCDC47, coiled-coil domain containing 47, 57003

N. diseases: 55; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.400 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
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: C0343073
Disease: Wooly hair
Wooly hair 		0.400 Biomarker phenotype HPO
CUI: C4748898
Disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
TRICHOHEPATONEURODEVELOPMENTAL SYNDROME 		0.400 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 30401460 2018
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
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0033774
Disease: Pruritus
Pruritus 		0.100 Biomarker phenotype HPO
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.100 Biomarker phenotype HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		0.100 Biomarker phenotype HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.100 Biomarker phenotype HPO