Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399379
Disease: Dentin dysplasia, type 1
Dentin dysplasia, type 1
0.510 Biomarker disease BEFREE We also excluded in our family the SMOC2 gene (Sparc Related Modular Calcium Binding Protein 2) which was recently identified as a causal gene in dentin dysplasia type I with microdontia and misshapen teeth. 23712319 2013
CUI: C0399379
Disease: Dentin dysplasia, type 1
Dentin dysplasia, type 1
0.510 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. 22152679 2011
CUI: C0399379
Disease: Dentin dysplasia, type 1
Dentin dysplasia, type 1
0.510 Biomarker disease CTD_human