Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple
0.410 GeneticVariation disease BEFREE Homozygous truncating PTPRF mutation causes athelia. 24781087 2014
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple
0.410 Biomarker disease GENOMICS_ENGLAND Homozygous truncating PTPRF mutation causes athelia. 24781087 2014
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple
0.410 Biomarker disease HPO