FUZ, fuzzy planar cell polarity protein, 80199

N. diseases: 75; N. variants: 5
Disease: Hyperparathyroidism-Jaw Tumor Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		0.010 GeneticVariation disease BEFREE Most pathogenic CDC73 missense mutations associated with the HPT-JT syndrome are located in the region encoding CDC73-NTD. 29142233 2017