Disease: Disorder of eye ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. 27419834 2016
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 GeneticVariation group BEFREE Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is caused by mutations in the CNNM4 gene. 24194943 2013
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND