FUZ, fuzzy planar cell polarity protein, 80199

N. diseases: 75; N. variants: 5
Disease: Caudal dysplasia syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2609260
Disease: Caudal dysplasia syndrome
Caudal dysplasia syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011