Gene: FAM20C ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C 		0.040 GeneticVariation group BEFREE Raine syndrome is a rare, autosomal recessive, osteosclerotic bone dysplasia due to pathogenic variants in FAM20C. 31297960 2019
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C 		0.040 GeneticVariation group BEFREE The missense mutation is notable because D(403) is strictly conserved among FAM20A homologues, and the corresponding defect in FAM20C caused osteosclerotic bone dysplasia and a loss of kinase activity. 24196488 2014
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C 		0.040 GeneticVariation group BEFREE Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome. 22582013 2012
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C 		0.040 GeneticVariation group BEFREE Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. 20825432 2011