Disease: Cone rod dystrophy amelogenesis imperfecta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931074
Disease: Cone rod dystrophy amelogenesis imperfecta
Cone rod dystrophy amelogenesis imperfecta 		0.300 GermlineCausalMutation disease ORPHANET Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. 24194943 2013
CUI: C2931074
Disease: Cone rod dystrophy amelogenesis imperfecta
Cone rod dystrophy amelogenesis imperfecta 		0.300 GermlineCausalMutation disease ORPHANET Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. 19200525 2009