FUZ, fuzzy planar cell polarity protein, 80199

N. diseases: 75; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.600 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.600 Biomarker disease HPO