Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
0.400 GermlineCausalMutation disease ORPHANET Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
0.400 CausalMutation disease CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
0.400 Biomarker disease HPO