Gene: CCNQ ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92002
Gene Symbol: CCNQ
CCNQ 		0.010 GeneticVariation disease BEFREE To our knowledge, this is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome. 28322501 2017