Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.400 Biomarker disease GENOMICS_ENGLAND Family segregation studies were possible in four out of five probands and showed possible sex-specific differences: CELSR1 variants showed almost complete penetrance in females and were associated with early-onset lymphedema, whereas in males they showed incomplete penetrance and were associated with late onset of the condition. 31215153 2019
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.400 GeneticVariation disease CLINVAR
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.400 CausalMutation disease CLINVAR