Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
0.100 GeneticVariation disease CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
0.100 CausalMutation disease CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478 2016