Disease: Cataract microcornea syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.310 GeneticVariation disease BEFREE We further confirmed our finding by identifying another heterozygous missense mutation, c.2408C>T, in ABCA3 in an additional dominant CCMC family (Family B), which also cosegregated with the phenotype. 25406294 2014
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND We further confirmed our finding by identifying another heterozygous missense mutation, c.2408C>T, in ABCA3 in an additional dominant CCMC family (Family B), which also cosegregated with the phenotype. 25406294 2014