Gene: SEC24D ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.030 GeneticVariation disease BEFREE Only 3 and 6 variants in SEC24D have been reported in patients with Cole-Carpenter syndrome type 2 and autosomal recessive OI, respectively. 30462379 2018
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.030 GeneticVariation disease BEFREE Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. 27942778 2017
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.030 GeneticVariation disease BEFREE Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 25683121 2015