Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Microcephaly with Chorioretinopathy, Autosomal Recessive
0.500 GermlineCausalMutation disease ORPHANET Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Microcephaly with Chorioretinopathy, Autosomal Recessive
0.500 Biomarker disease CTD_human